ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance for Basal cell carcinoma, susceptibility to, 1

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg) rs1060502276 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 0.00001
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 0.00001
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331 0.00001
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His) rs1277111019 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000 0.00001
NM_000264.5(PTCH1):c.3449+10C>T rs371546179 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.3592C>T (p.Pro1198Ser) rs1280830531 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser) rs1060502265 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.4003A>C (p.Asn1335His) rs1838020531 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala) rs864622456 0.00001
NM_000264.5(PTCH1):c.4114A>G (p.Thr1372Ala) rs1837997051 0.00001
NM_000264.5(PTCH1):c.413G>A (p.Arg138His) rs763774051 0.00001
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu) rs758656848 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.566A>G (p.His189Arg) rs751113638 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg) rs1487227339 0.00001
NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr) rs1039069537 0.00001
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1242C>G (p.Asn414Lys) rs2118338058
NM_000264.5(PTCH1):c.1274C>A (p.Thr425Lys) rs768956985
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu) rs759493890
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1417G>C (p.Gly473Arg) rs2538205440
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1486A>G (p.Asn496Asp) rs2538204742
NM_000264.5(PTCH1):c.1509G>T (p.Leu503Phe) rs2538200398
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu) rs1588598694
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val) rs755139183
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala) rs2118281472
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr) rs1588596119
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser) rs1703756604
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys) rs1345518847
NM_000264.5(PTCH1):c.2657T>A (p.Leu886His) rs2136687827
NM_000264.5(PTCH1):c.2672G>C (p.Gly891Ala) rs2136687351
NM_000264.5(PTCH1):c.2800T>C (p.Tyr934His) rs2136671478
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr) rs765746826
NM_000264.5(PTCH1):c.2969C>T (p.Ala990Val) rs2136661976
NM_000264.5(PTCH1):c.3058_3060delinsGAC (p.Gln1020Asp) rs2538067907
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.308T>C (p.Val103Ala) rs2118877127
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr) rs2118876529
NM_000264.5(PTCH1):c.3268G>A (p.Val1090Ile) rs775188592
NM_000264.5(PTCH1):c.3278G>A (p.Gly1093Glu) rs2538056200
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val) rs2538041144
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3443T>A (p.Ile1148Asn) rs1838650766
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met) rs1588519562
NM_000264.5(PTCH1):c.3473_3478del (p.Ile1158_Leu1159del) rs2538021401
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg) rs1234085004
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val) rs776424978
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.3712C>T (p.Leu1238Phe) rs2136598717
NM_000264.5(PTCH1):c.3726G>T (p.Glu1242Asp) rs1838214724
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg) rs1838211042
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr) rs780990429
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln) rs2136596563
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met) rs1838059096
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser) rs2136583938
NM_000264.5(PTCH1):c.3901C>T (p.Gln1301Ter) rs2136582554
NM_000264.5(PTCH1):c.3912_3919dup (p.Pro1307fs) rs2538001914
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr) rs1838019230
NM_000264.5(PTCH1):c.4018G>T (p.Gly1340Cys) rs1485371101
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4077C>A (p.Ser1359Arg) rs2136577235
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3]) rs1060502272
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser) rs1554688130
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys) rs1837949550
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val) rs1060502288
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp) rs2118543274
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr) rs780378700
NM_000264.5(PTCH1):c.659T>C (p.Ile220Thr) rs2118466871
NM_000264.5(PTCH1):c.689_690insTAA (p.Thr230_Pro231insLys) rs2538245549
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.899C>A (p.Ala300Asp) rs1421967825
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met) rs1358555059

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