Table 1 TMPRSS6 pathogenic/likely pathogenic missense variants present in gnomAD with global minor allele frequencies
From: The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia
Genomic position | Nucleotide change | Amino acid change | gnomAD MAF†|
|---|---|---|---|
22–37494466-G-T | 326C > A | Ala109Asp | 0.000007953 |
22–37494467-C-T | 325G > A | Ala109Thr | 0.000003976 |
22–37492697-T-C | 395A > G | Tyr132Cys | 0.000005758 |
22–37491614-A-G | 608 T > C | Ile203Thr | 0.00001608 |
22–37491613-T-C | 609A > G | Ile203Met | 0.000004025 |
22–37491614-A-T | 608 T > A | Ile203Lys | 0.000004021 |
22–37485778-G-T | 676C > A | Leu226Met | 0.000004077 |
22–37485747-C-G | 707G > C | Cys236Ser | 0.00004799 |
22–37485747-C-T | 707G > A | Cys236Tyr | 0.000004102 |
22–37485646-C-T | 808G > A | Gly270Arg | 0.00002176 |
22–37482412-G-A | 884C > T | Ser295Leu | 0.000007375 |
22–37480876-C-T | 977G > A | Cys326Tyr | 0.000006391 |
22–37480819-G-A | 1034C > T | Pro345Leu | 0.00001131 |
22–37471316-A-G | 1201 T > C | Cys401Arg | 0.000008036 |
22–37471291-T-C | 1226A > G | Tyr409Cys | 0.000004 |
22–37471220-C-T | 1297G > A | Gly433Arg | 0.000003981 |
22–37469593-C-T | 1534G > A | Asp512Asn | 0.00003183 |
22–37469591-G-C | 1536C > A | Asp512Glu | 0.000003979 |
22–37469590-C-T | 1537G > A | Glu513Lys | 0.00001591 |
22–37466665-C-A | 1700G > T | Arg567Leu | 0.000004018 |
22–37466665-C-T | 1700G > A | Arg567His | 0.00003134 |
22–37466666-G-A | 1699C > T | Arg567Cys | 0.00003215 |
22–37466624-A-G | 1741 T > C | Trp581Arg | 0.000003997 |
22–37466603-G-A | 1762C > T | Arg588Trp | 0.00001599 |
22–37466602-C-T | 1763G > A | Arg588Gln | 0.00001598 |
22–37466585-C-G | 1780G > C | Gly594Arg | 0.00005675 |
22–37466584-C-G | 1781G > C | Gly594Ala | 0.000003991 |
22–37466585-C-A | 1780G > T | Gly594Trp | 0.00003193 |
22–37466578-G-A | 1787C > T | Ala596Val | 0.00003188 |
22–37466579-C-T | 1786G > A | Ala596Thr | 0.000004002 |
22–37466576-G-A | 1789C > T | Leu597Phe | 0.000007982 |
22–37465232-A-C | 1994 T > G | Leu665Arg | 0.000004545 |
22–37465149-A-G | 2077 T > C | Cys693Arg | 0.000006261 |
22–37462272-A-G | 2257 T > C | Ser753Pro | 0.000007297 |
22–37462263-G-C | 2266C > G | Pro756Ala | 0.00002173 |
22–37462262-G-A | 2267C > T | Pro756Leu | 0.00001448 |
22–37462236-G-A | 2293C > T | Arg765Cys | 0.00002154 |
22–37462235-C-T | 2294G > A | Arg765His | 0.00002154 |
37499456A > T | 2 T > A | Met1Lys | 0.000003977 |
37499455C > T | 3G > A | Met1Ile | 0.000003977 |