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Table 2 CTX prevalence estimates across six gnomAD populations

From: Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

Model

Estimate

AFR

EAS

FIN

EUR

AMR*

SAS

ClinV-P + SeqCon-P

per 100,000

0.21

1.41

0.03

0.25

0.21

0.95

1 per

472,468

71,089

3,946,059

393,497

482,603

105,299

ClinV-P + SeqCon-P + Revel-P

per 100,000

0.6

2.25

0.03

0.43

1.41/0.63

1.07

1 per

166,440

44,407

3,388,767

233,597

70,795/157,878

93,084

Carrier Frequency

0.0049

0.0095

0.00108

0.00414

0.00752/0.00504

0.00656

Pooled AF (95% CI)

0.00245 (0.00071–0.00898)

0.00475 (0.00187–0.01457)

0.00054 (0.00019–0.00169)

0.00207 (0.0008–0.00671)

0.00376 (0.00206–0.0082)/0.00252 (0.00113–0.00653)

0.00328 (0.00172–0.00764)

  1. *In the model ClinV-P + SeqCon-P + Revel-P, the two prevalence estimates correspond to with/without the M383K variant
  2. AF, allele frequency; AFR, African/African American; AMR, Latino Admixed American; EAS, East Asian; EUR, European non-Finnish; FIN, European Finnish; SAS, South Asian