ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 18B by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)

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