ClinVar Miner

List of variants in gene PTCH1 reported as likely benign for not provided

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Total variants: 18
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HGVS dbSNP
NM_001083602.2(PTCH1):c.-435A>T
NM_001083602.2(PTCH1):c.1+229G>A
NM_001083602.2(PTCH1):c.1017+143C>T
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1306-3T>C
NM_001083602.2(PTCH1):c.1404+181A>G
NM_001083602.2(PTCH1):c.1463G>A (p.Ser488Asn) rs148367880
NM_001083602.2(PTCH1):c.196+212C>A
NM_001083602.2(PTCH1):c.2363-20C>A
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) rs771732591
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2562C>T (p.Tyr854=)
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) rs201595274
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.4-1708G>A rs778460384
NM_001083602.2(PTCH1):c.4-217C>T

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