ClinVar Miner

List of variants reported as uncertain significance for Familial idiopathic hypercalciuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_018417.6(ADCY10):c.4424A>G (p.Gln1475Arg) rs199702241 0.00030
NM_018417.6(ADCY10):c.4547T>C (p.Leu1516Pro) rs186485513 0.00013
NM_018417.6(ADCY10):c.758G>A (p.Cys253Tyr) rs145461869 0.00009
NM_018417.6(ADCY10):c.2278A>C (p.Lys760Gln) rs200458596 0.00006
NM_018417.6(ADCY10):c.3746T>C (p.Phe1249Ser) rs368942743 0.00006
NM_018417.6(ADCY10):c.2111A>G (p.Asp704Gly) rs202048906 0.00005
NM_018417.6(ADCY10):c.4816G>A (p.Val1606Met) rs201892899 0.00005
NM_018417.6(ADCY10):c.2005A>G (p.Ile669Val) rs764189405 0.00004
NM_018417.6(ADCY10):c.229T>C (p.Tyr77His) rs148603197 0.00004
NM_018417.6(ADCY10):c.349A>G (p.Thr117Ala) rs529970359 0.00004
NM_018417.6(ADCY10):c.4504C>G (p.Gln1502Glu) rs200833497 0.00004
NM_018417.6(ADCY10):c.2056G>A (p.Val686Ile) rs373573088 0.00003
NM_018417.6(ADCY10):c.3667T>C (p.Tyr1223His) rs151050988 0.00003
NM_018417.6(ADCY10):c.3307A>C (p.Met1103Leu) rs755931495 0.00002
NM_018417.6(ADCY10):c.1025G>T (p.Cys342Phe) rs199965059 0.00001
NM_018417.6(ADCY10):c.1139+6T>G rs777564091 0.00001
NM_018417.6(ADCY10):c.3422G>C (p.Cys1141Ser) rs1186181573 0.00001
NM_018417.6(ADCY10):c.4763G>C (p.Arg1588Thr) rs755426228 0.00001
NM_018417.6(ADCY10):c.253+4A>G rs949024270
NM_018417.6(ADCY10):c.2872G>T (p.Glu958Ter) rs376243653
NM_018417.6(ADCY10):c.307G>T (p.Ala103Ser) rs1669443980
NM_018417.6(ADCY10):c.4171T>G (p.Phe1391Val) rs1662951098

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