ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_153212.3(GJB4):c.109G>A (p.Val37Met) rs146378222 0.00028
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943

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