ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic by Paul Sabatier University EA-4555, Paul Sabatier University

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Total variants: 6
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HGVS dbSNP
NM_001083602.2(PTCH1):c.-346del rs752765582
NM_001083602.2(PTCH1):c.2497A>G (p.Ile833Val) rs765371196
NM_001083602.2(PTCH1):c.2993C>T (p.Thr998Met) rs368417828
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp) rs372027952
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171

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