ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 21

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.3520C>T (p.Arg1174Ter)
NM_005422.4(TECTA):c.4224C>A (p.Cys1408Ter)
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter) rs267602733
NM_005422.4(TECTA):c.6150C>A (p.Tyr2050Ter)
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673

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