ClinVar Miner

List of variants reported as likely pathogenic for Gorlin syndrome

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Total variants: 16
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HGVS dbSNP
NM_000264.3(PTCH1):c.2251-28_2276delGTCTGACCTTGTGCCTCTTCTGTTCCAGGTAGTGGTGATCTTCCTTTTTCTGGG
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000264.3(PTCH1):c.747-57_1258del
NM_000264.4(PTCH1):c.1418_1432delGCGTCCTGCTGGTTG (p.Gly473_Val477del) rs1554698582
NM_000264.4(PTCH1):c.1503+1G>C rs864622293
NM_000264.4(PTCH1):c.1602+1G>A
NM_000264.4(PTCH1):c.1602+1G>T rs1060502277
NM_000264.4(PTCH1):c.202-2A>G rs878853849
NM_000264.4(PTCH1):c.2561-2A>T rs878853852
NM_000264.4(PTCH1):c.3169-1G>A rs1060502285
NM_000264.4(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.4(PTCH1):c.3449+1G>A rs863224442
NM_000264.4(PTCH1):c.3450-2A>G rs863224443
NM_000264.4(PTCH1):c.740_746+1delinsA rs1554700574
NM_001083602.2(PTCH1):c.209dup (p.Ser71Lysfs)
NM_001166292.1(PTCH2):c.1172_1173delCT (p.Ser391Terfs) rs56126236

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