ClinVar Miner

List of variants studied for Hearing impairment by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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