ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as uncertain significance by GeneDx

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile) rs369090032 0.00001
NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met) rs752043221 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr) rs370915763 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.1775T>C (p.Phe592Ser)
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.1960A>T (p.Thr654Ser) rs2118050394
NM_000264.5(PTCH1):c.1984G>T (p.Val662Phe)
NM_000264.5(PTCH1):c.2057C>T (p.Ser686Phe)
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp) rs1060502293
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2414T>A (p.Ile805Lys)
NM_000264.5(PTCH1):c.2417_2418delinsGGACT (p.Val806delinsGlyThr) rs2117961134
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.2553G>T (p.Trp851Cys)

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