ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 39

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_000601.6(HGF):c.724C>T (p.Arg242Trp) rs202185530 0.00006
NM_000601.6(HGF):c.6G>T (p.Trp2Cys) rs745851853 0.00001
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_000601.6(HGF):c.482+1986_482+1988del rs1788701297
NM_000601.6(HGF):c.482+1991_482+2000del
NM_000601.6(HGF):c.495G>A (p.Ser165=) rs137853235
NM_000601.6(HGF):c.866-22del rs5745686
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762

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