ClinVar Miner

List of variants studied for Hearing loss, autosomal recessive by Hereditary Research Laboratory, Bethlehem University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly) rs764139009 0.00001
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854 0.00001
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) rs1060499797

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