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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Gene type:
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Total variants: 6
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NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_001083602.2(PTCH1):c.-346del rs752765582

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