ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as likely pathogenic

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del) rs1588578536
NM_000264.5(PTCH1):c.1778C>G (p.Pro593Arg) rs2118094139
NM_000264.5(PTCH1):c.1847+1G>T
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs) rs2118045103
NM_000264.5(PTCH1):c.2086dup (p.Thr696fs)
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2250+1G>T
NM_000264.5(PTCH1):c.2251-1G>A
NM_000264.5(PTCH1):c.2251-27_2251-1del
NM_000264.5(PTCH1):c.2251-28_2276del rs1564031259
NM_000264.5(PTCH1):c.2251-2A>G rs2117976305
NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) rs1840113211
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
NM_000264.5(PTCH1):c.2305_2319del (p.Thr769_Asp773del)
NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro) rs869025270
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp) rs786204167
NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg) rs2117947928
NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser) rs2117947811

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