ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as benign for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_000264.5(PTCH1):c.1847+187C>T rs28702657 0.24126
NM_000264.5(PTCH1):c.2561-2115T>G rs28494679 0.12337
NM_000264.5(PTCH1):c.2561-1786C>T rs867452 0.12332
NM_000264.5(PTCH1):c.2250+126A>G rs28711421 0.11595
NM_000264.5(PTCH1):c.2561-2027G>A rs28493225 0.11236
NM_000264.5(PTCH1):c.2250+25T>C rs16909898 0.10561
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.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.2148C>T (p.Ser716=) rs781475120 0.00014
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.2250+108del rs35352942
NM_000264.5(PTCH1):c.2561-1887C>T rs57068466

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