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. 2020 Aug 26;15:222. doi: 10.1186/s13023-020-01508-3

Table 1.

Frequencies of three Roma prevalent hearing loss variants in gnomAD

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

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

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