ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 8 by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000 0.00003
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly) rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_024022.4:c.1180_1187delinsN1234

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