ClinVar Miner

List of variants in gene PTCH1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000264.3(PTCH1):c.3450delG rs1131691001
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs) rs1554699612
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter) rs2118391725
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter) rs1131690970
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer) rs1131691002
NM_000264.5(PTCH1):c.1136_1137del (p.Gly378_Tyr379insTer)
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter) rs1588605348
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter) rs1432645175
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter) rs2538216536
NM_000264.5(PTCH1):c.1303dup (p.Ser435fs) rs2118332288
NM_000264.5(PTCH1):c.1334del (p.Gly445fs) rs1131690978
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs) rs1588602354
NM_000264.5(PTCH1):c.1350del (p.Ala451fs) rs1588601051
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs) rs2538206190
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter) rs1131690974
NM_000264.5(PTCH1):c.1504-2A>C rs1131690984
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.5(PTCH1):c.1603-2A>C rs1064793921
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs) rs2538192076
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.202-2A>C rs878853849
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2566C>T (p.Gln856Ter)
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs) rs2538095587
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2598del (p.Ile868fs) rs1131690975
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs) rs2118879343
NM_000264.5(PTCH1):c.2679dup (p.Asp894fs) rs2538093992
NM_000264.5(PTCH1):c.2680_2683delinsCC (p.Asp894fs) rs2538093912
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs) rs1131690972
NM_000264.5(PTCH1):c.278_282del (p.Tyr93fs) rs2538383618
NM_000264.5(PTCH1):c.2794del (p.Val932fs) rs1131690997
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) rs1554708753
NM_000264.5(PTCH1):c.2822del (p.Ile941fs) rs2538079030
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) rs1587693508
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs) rs863224485
NM_000264.5(PTCH1):c.2872del (p.Glu958fs) rs2538077890
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs) rs2538069658
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter) rs1131690968
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter) rs747234651
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer) rs1131690980
NM_000264.5(PTCH1):c.3149_3150dup (p.Trp1051fs)
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs) rs1588539623
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs) rs1588535611
NM_000264.5(PTCH1):c.3264_3273del (p.Ala1088_Ser1089insTer) rs2538056290
NM_000264.5(PTCH1):c.3298_3306+3del rs2538055619
NM_000264.5(PTCH1):c.331dup (p.Ala111fs) rs2538382746
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) rs1060502273
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs) rs1131690976
NM_000264.5(PTCH1):c.3463del (p.Val1155fs)
NM_000264.5(PTCH1):c.3516del (p.Val1173fs) rs2538020986
NM_000264.5(PTCH1):c.371_387del (p.Asn124fs) rs1554708626
NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter) rs2118873472
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.401dup (p.Arg135fs)
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.445G>T (p.Glu149Ter)
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) rs1344258746
NM_000264.5(PTCH1):c.454_455del (p.Met152fs) rs1060502280
NM_000264.5(PTCH1):c.456del (p.Met152fs) rs2538269188
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs) rs1131690981
NM_000264.5(PTCH1):c.497del (p.Gly166fs) rs2538268224
NM_000264.5(PTCH1):c.585-15_586del rs2538248061
NM_000264.5(PTCH1):c.594del (p.Lys198fs) rs2538247904
NM_000264.5(PTCH1):c.606dup (p.Cys203fs)
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter) rs1554700724
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs) rs1131690993
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter) rs1588614178
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.715dup (p.Ala239fs) rs1131690971
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) rs1060502281
NM_000264.5(PTCH1):c.746+1G>C rs1131690994
NM_000264.5(PTCH1):c.805_806dup (p.Lys270fs) rs2538233265
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer) rs1131690969
NM_000264.5(PTCH1):c.817dup (p.Tyr273fs)
NM_000264.5(PTCH1):c.877_887del (p.Asp293fs) rs1131690973
NM_000264.5(PTCH1):c.881_882del (p.Arg294fs)
NM_000264.5(PTCH1):c.886del (p.Cys296fs) rs1131690987
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs) rs2538230250
NM_000264.5(PTCH1):c.945+1G>A rs863224444
NM_000264.5(PTCH1):c.945+2T>C rs1131690979
NM_000264.5(PTCH1):c.954dup (p.Met319fs) rs2538226569

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