ClinVar Miner

List of variants reported as likely pathogenic for Gorlin syndrome

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Total variants: 33
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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.1737_1739AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del) rs1588578536
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2251-28_2276del rs1564031259
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp) rs786204167
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.395-1G>A rs368869806
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
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
NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) rs56126236
NM_016169.4(SUFU):c.1296+1635C>A
NR_149061.2:n.2684_3100del

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