ClinVar Miner

List of variants in gene PTCH1 reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter) rs267606984
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091
NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly) rs199476093
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.5(PTCH1):c.3340A>T (p.Arg1114Trp) rs587776689
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter) rs1587692888
PTCH1, 1-BP DEL, 2583C
PTCH1, 1-BP INS, 1247T
PTCH1, 1-BP INS, 2000C
PTCH1, 11-BP DEL, NT2442
PTCH1, 1148G-A
PTCH1, 2-BP INS, 2047CT
PTCH1, 37-BP DEL, NT808
PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS
PTCH1, PRO-SER, 451C-T

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