ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_000264.4(PTCH1):c.1067+5G>C rs372657547
NM_000264.4(PTCH1):c.1153A>G (p.Ile385Val) rs977358021
NM_000264.4(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.4(PTCH1):c.1665_1666delTGinsCA (p.Val556Ile) rs1064795375
NM_000264.4(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532
NM_000264.4(PTCH1):c.4141G>A (p.Val1381Met) rs187104739
NM_000264.4(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883
NM_000264.4(PTCH1):c.56G>T (p.Gly19Val) rs587780708

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