ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731

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