ClinVar Miner

List of variants studied for Gorlin syndrome by Baylor Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg) rs375651844 0.00011
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_016169.4(SUFU):c.183-4G>A rs766044613 0.00005
NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu) rs1315638429 0.00004
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp) rs138729094 0.00003
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu) rs372546614 0.00001
NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys) rs772919434 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys) rs1588602943
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile) rs1653965168
NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser) rs908352571
NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) rs772146260

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