ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.95482199_95482204del
NM_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1348-1G>T
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
NM_000264.5(PTCH1):c.2887+2T>C rs1839273008
NM_000264.5(PTCH1):c.3168+3G>C
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.5(PTCH1):c.3450-11T>A
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.3549+1G>A rs1838303542
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.945+5G>A rs1588609575

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