ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=) rs539319573 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.1153A>G (p.Ile385Val) rs977358021 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val) rs752530755 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser) rs187813269 0.00001
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His) rs370150142 0.00001
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala) rs746275162 0.00001
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=) rs757268536 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 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.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3804+6T>G rs1298248967 0.00001
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) rs786204201 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys) rs587780705 0.00001
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser) rs751024812 0.00001
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg) rs770046324 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.*2-1G>A
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1164C>A (p.Asn388Lys) rs201602238
NM_000264.5(PTCH1):c.1195T>A (p.Trp399Arg) rs2118364438
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1267A>C (p.Thr423Pro)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg) rs2118303660
NM_000264.5(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.5(PTCH1):c.1581G>T (p.Gln527His) rs2118280777
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg) rs1347882326
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1665_1666inv (p.Val556Ile)
NM_000264.5(PTCH1):c.1687G>T (p.Ala563Ser) rs146616780
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val) rs2136689015
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe) rs1839284772
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3457T>C (p.Phe1153Leu)
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro) rs878853857
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3886G>T (p.Gly1296Ter)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) rs150373546
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs) rs1588510168
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4294C>T (p.Leu1432=)
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.531A>T (p.Gln177His) rs1841912540
NM_000264.5(PTCH1):c.548T>C (p.Leu183Pro)
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
NM_000264.5(PTCH1):c.910T>A (p.Cys304Ser)
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.946-5T>A rs1588608882

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