ClinVar Miner

List of variants in gene PTCH1 reported as likely benign by PreventionGenetics

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Total variants: 16
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.1530+16T>A rs758961945
NM_001083602.2(PTCH1):c.196+24C>T rs561263076
NM_001083602.2(PTCH1):c.196+37C>G rs543169448
NM_001083602.2(PTCH1):c.2919A>G (p.Thr973=) rs775579178
NM_001083602.2(PTCH1):c.2970+34A>G rs751374954
NM_001083602.2(PTCH1):c.3174A>T (p.Ala1058=) rs756638660
NM_001083602.2(PTCH1):c.3237C>T (p.Phe1079=) rs200435277
NM_001083602.2(PTCH1):c.3252-15C>T rs755474627
NM_001083602.2(PTCH1):c.369T>C (p.His123=) rs150759973
NM_001083602.2(PTCH1):c.387-34G>C rs377379088
NM_001083602.2(PTCH1):c.4-1786GGC[4] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[9] rs71366293
NM_001083602.2(PTCH1):c.4-19C>T rs886038275
NM_001083602.2(PTCH1):c.684C>T (p.Arg228=) rs145893445

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