ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic by Invitae

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Total variants: 13
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1220_1234del (p.Gly407_Val411del) rs1554698582
NM_001083602.2(PTCH1):c.1305+1G>C rs864622293
NM_001083602.2(PTCH1):c.1404+1G>A
NM_001083602.2(PTCH1):c.1404+1G>T rs1060502277
NM_001083602.2(PTCH1):c.2363-2A>T rs878853852
NM_001083602.2(PTCH1):c.2970+5G>A
NM_001083602.2(PTCH1):c.2971-1G>A rs1060502285
NM_001083602.2(PTCH1):c.3196T>C (p.Ser1066Pro) rs878853856
NM_001083602.2(PTCH1):c.3251+1G>A rs863224442
NM_001083602.2(PTCH1):c.4-2A>G rs878853849
NM_001083602.2(PTCH1):c.543_548+1del rs1554700574
NM_001083602.2(PTCH1):c.549-54_1063del
NM_001083602.2(PTCH1):c.747+2_747+8delinsCGCT

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