ClinVar Miner

List of variants reported as likely benign by Gharavi Laboratory, Columbia University

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828 0.00019
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg) rs121917891 0.00001
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) rs121917890 0.00001
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)

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