ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 70

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004526.4(MCM2):c.2013+10A>G rs782427 0.81303
NM_004526.4(MCM2):c.504C>T (p.Ile168=) rs893293 0.67673
NM_004526.4(MCM2):c.1510C>A (p.Pro504Thr) rs150403449 0.00016
NM_004526.4(MCM2):c.449A>G (p.Lys150Arg) rs764317061 0.00008
NM_004526.4(MCM2):c.2444G>A (p.Arg815His) rs779228557 0.00003
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser) rs767616299 0.00002
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys) rs373695678 0.00001
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys) rs375851208 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_004526.4(MCM2):c.1684C>T (p.Arg562Trp)
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys) rs199660068
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004526.4(MCM2):c.53G>C (p.Arg18Pro)
NM_004526.4(MCM2):c.758C>T (p.Ala253Val)
NM_004526.4(MCM2):c.850C>T (p.Arg284Cys)

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