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Table 1 Frequencies of three Roma prevalent hearing loss variants in gnomAD

From: Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

gnomAD allele frequencies

MANBA c.2158-2A>G

GJB2 c.71G>A, p.W24*

MARVELD2 c.1331+2T>C

 

rs772852668

rs104894396

rs772048719

all

0.0024%

0.052%

0.0040%

South Asian population

0%

0.44%

0.020%

genotypes - het: wt

0: 15303

134: 15174

6: 15302

European Non-Finish population

0.0018%

0.0063%

0.0026%

genotypes - hom:het:wt

0: 2: 56692

1: 6: 63872

0: 3: 56781

Latino population

0.012%

0.0028%

0%

Allele frequencies detected in this report

CZ genotypes - het: wt

1.89% 5: 127 (3.79%)

Not tested

Not tested

SK genotypes - het: wt

1.88% 8: 205 (3.76%)

Not tested

Not tested

  1. Legend – gnomAD [39] allele frequencies and genotypes for prevalent Roma variants in MANBA, GJB2 and MARVELD2 are shown. All populations, in which the frequency was detected, are shown except for the c.71G>A (p.W24*) where one more frequency is listed (OTH - other populations, 4 heterozygotes were detected). The frequency and numbers of individual genotypes are listed for the complex overview
  2. CZ - Czech Roma population, SK - Slovak Roma population, Het - heterozygous for pathogenic allele, hom - homozygous for pathogenic allele, wt - wildtype, both alleles are reference alleles, frequencies are in bold
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172