ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as likely benign by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+134T>A rs45628039 0.03416
NM_000264.5(PTCH1):c.2560+243G>A rs56360859 0.01147
NM_000264.5(PTCH1):c.2561-1987G>A rs73542177 0.01073
NM_000264.5(PTCH1):c.2560+108G>A rs55876424 0.00466
NM_000264.5(PTCH1):c.1847+260G>A rs141619461 0.00299
NM_000264.5(PTCH1):c.2560+215G>A rs652525 0.00252
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437 0.00019
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2466A>G (p.Leu822=) rs750317626 0.00001
NM_000264.5(PTCH1):c.2281C>T (p.Leu761=) rs1554694457
NM_000264.5(PTCH1):c.2560+32G>A rs2066837

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