ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
NC_000009.12:g.(?_95449059)_(95449950_?)del
NC_000009.12:g.(?_95456266)_(95459793_?)del
NM_000264.5(PTCH1):c.1347+2T>C
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del) rs1554698582
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1602+1G>A rs1060502277
NM_000264.5(PTCH1):c.1602+1G>T rs1060502277
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp) rs766973191
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2561-2A>T rs878853852
NM_000264.5(PTCH1):c.3168+5G>A rs1588539525
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3307-115_3339del
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3449+1G>A rs863224442
NM_000264.5(PTCH1):c.3450-1G>C
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg)
NM_000264.5(PTCH1):c.3549+2T>G
NM_000264.5(PTCH1):c.3550-2A>C
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.741_746+1del rs1554700574
NM_000264.5(PTCH1):c.746+2T>G
NM_000264.5(PTCH1):c.747-54_1261del
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT rs1588609559
NR_149061.2:n.2684_3100del

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