ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1264T>C (p.Cys422Arg) rs1131690999
NM_001083602.2(PTCH1):c.3206T>C (p.Leu1069Pro) rs1131690989
NM_001083602.2(PTCH1):c.3242T>C (p.Phe1081Ser) rs1131690990
NM_001083602.2(PTCH1):c.3301G>A (p.Gly1101Arg) rs1131690985
NM_001083602.2(PTCH1):c.4-1561G>A rs1131690967
NM_001083602.2(PTCH1):c.870-1G>T rs1085307752
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797

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