ClinVar Miner

List of variants in gene PTCH1 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1018-10G>A rs587780691
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1020G>A (p.Val340=) rs753586235
NM_001083602.2(PTCH1):c.1049C>G (p.Thr350Ser) rs201174718
NM_001083602.2(PTCH1):c.1050T>C (p.Thr350=) rs863224345
NM_001083602.2(PTCH1):c.1050T>G (p.Thr350=) rs863224345
NM_001083602.2(PTCH1):c.1059G>A (p.Val353=) rs1060504535
NM_001083602.2(PTCH1):c.1077G>A (p.Thr359=) rs150837425
NM_001083602.2(PTCH1):c.1101C>A (p.Ser367=) rs1366832439
NM_001083602.2(PTCH1):c.1110C>T (p.Asp370=) rs148471237
NM_001083602.2(PTCH1):c.1125C>T (p.Arg375=) rs1060504540
NM_001083602.2(PTCH1):c.1134C>T (p.Ser378=) rs373930674
NM_001083602.2(PTCH1):c.1149+10G>A rs370916305
NM_001083602.2(PTCH1):c.1149+9C>T rs775905392
NM_001083602.2(PTCH1):c.1150-4G>A rs772826555
NM_001083602.2(PTCH1):c.117C>G (p.Gly39=) rs1060504542
NM_001083602.2(PTCH1):c.1206C>T (p.Ala402=) rs201246004
NM_001083602.2(PTCH1):c.1233T>C (p.Val411=) rs147162848
NM_001083602.2(PTCH1):c.1263G>A (p.Leu421=) rs1398912905
NM_001083602.2(PTCH1):c.1269A>G (p.Ser423=) rs747623182
NM_001083602.2(PTCH1):c.1275C>T (p.Ile425=) rs768183391
NM_001083602.2(PTCH1):c.1290C>T (p.Asn430=) rs577742581
NM_001083602.2(PTCH1):c.1293T>C (p.Ala431=) rs1060504538
NM_001083602.2(PTCH1):c.1326T>C (p.Leu442=) rs778837458
NM_001083602.2(PTCH1):c.1353T>C (p.Leu451=) rs983687905
NM_001083602.2(PTCH1):c.135C>T (p.Ala45=) rs863224351
NM_001083602.2(PTCH1):c.1362C>T (p.His454=) rs952270018
NM_001083602.2(PTCH1):c.1395C>T (p.Ile465=) rs587780694
NM_001083602.2(PTCH1):c.1404+8A>G rs1554698205
NM_001083602.2(PTCH1):c.1431C>G (p.Arg477=) rs557468315
NM_001083602.2(PTCH1):c.1431C>T (p.Arg477=) rs557468315
NM_001083602.2(PTCH1):c.1455G>A (p.Thr485=) rs766039170
NM_001083602.2(PTCH1):c.148T>C (p.Leu50=) rs576398790
NM_001083602.2(PTCH1):c.1491G>A (p.Ala497=) rs371757261
NM_001083602.2(PTCH1):c.1491G>C (p.Ala497=) rs371757261
NM_001083602.2(PTCH1):c.1506C>T (p.Pro502=) rs912977281
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.1515G>T (p.Arg505=) rs762575636
NM_001083602.2(PTCH1):c.1530+7T>C rs776735470
NM_001083602.2(PTCH1):c.1530+8T>G rs864622243
NM_001083602.2(PTCH1):c.1530+9C>T rs1060504541
NM_001083602.2(PTCH1):c.15T>C (p.Thr5=) rs1457697349
NM_001083602.2(PTCH1):c.196+10C>T rs755119764
NM_001083602.2(PTCH1):c.197-9A>G rs781395697
NM_001083602.2(PTCH1):c.222A>G (p.Leu74=) rs372559495
NM_001083602.2(PTCH1):c.2363-10C>A rs763935951
NM_001083602.2(PTCH1):c.2363-10C>T rs763935951
NM_001083602.2(PTCH1):c.2363-7T>C rs112140654
NM_001083602.2(PTCH1):c.2412A>C (p.Pro804=) rs762087413
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) rs771732591
NM_001083602.2(PTCH1):c.2481C>T (p.Arg827=) rs752658093
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2506-10G>A rs566679986
NM_001083602.2(PTCH1):c.2506-4G>A rs864622248
NM_001083602.2(PTCH1):c.2506-5T>C rs1023491715
NM_001083602.2(PTCH1):c.2541C>A (p.Ile847=) rs1305314328
NM_001083602.2(PTCH1):c.2553C>T (p.Ser851=) rs768127089
NM_001083602.2(PTCH1):c.2568C>T (p.Tyr856=) rs1554691698
NM_001083602.2(PTCH1):c.2569C>T (p.Leu857=) rs1554691697
NM_001083602.2(PTCH1):c.2616G>A (p.Gln872=) rs587780534
NM_001083602.2(PTCH1):c.2628G>A (p.Arg876=) rs934070764
NM_001083602.2(PTCH1):c.2661C>T (p.Ala887=) rs142131559
NM_001083602.2(PTCH1):c.2689+10G>A rs202081420
NM_001083602.2(PTCH1):c.2706C>G (p.Pro902=) rs1554691433
NM_001083602.2(PTCH1):c.2751C>T (p.Asp917=) rs1204950098
NM_001083602.2(PTCH1):c.2757A>C (p.Ser919=) rs1060504532
NM_001083602.2(PTCH1):c.2790C>T (p.Thr930=) rs759501618
NM_001083602.2(PTCH1):c.2808G>A (p.Thr936=) rs142362404
NM_001083602.2(PTCH1):c.2820G>A (p.Leu940=) rs863224350
NM_001083602.2(PTCH1):c.2829C>T (p.Tyr943=) rs747234651
NM_001083602.2(PTCH1):c.2865C>T (p.Tyr955=) rs777191105
NM_001083602.2(PTCH1):c.2868C>T (p.Ile956=) rs755755175
NM_001083602.2(PTCH1):c.2925C>T (p.Leu975=) rs1554691356
NM_001083602.2(PTCH1):c.2934T>C (p.Ala978=) rs1166490973
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.2961C>T (p.Ala987=) rs780700622
NM_001083602.2(PTCH1):c.2985G>A (p.Ala995=) rs878853854
NM_001083602.2(PTCH1):c.2997C>T (p.Val999=) rs370936145
NM_001083602.2(PTCH1):c.3006C>T (p.Phe1002=) rs762419846
NM_001083602.2(PTCH1):c.3021C>T (p.Leu1007=) rs771814170
NM_001083602.2(PTCH1):c.3048C>T (p.Pro1016=) rs750725851
NM_001083602.2(PTCH1):c.3093C>T (p.Thr1031=) rs141016655
NM_001083602.2(PTCH1):c.30G>A (p.Pro10=) rs140542305
NM_001083602.2(PTCH1):c.3109-7T>C rs878853855
NM_001083602.2(PTCH1):c.3142A>C (p.Arg1048=) rs587776689
NM_001083602.2(PTCH1):c.3156C>G (p.Ala1052=) rs1554690459
NM_001083602.2(PTCH1):c.3174A>T (p.Ala1058=) rs756638660
NM_001083602.2(PTCH1):c.3177C>T (p.Pro1059=) rs369760318
NM_001083602.2(PTCH1):c.3192C>T (p.Ala1064=) rs762637887
NM_001083602.2(PTCH1):c.3231T>C (p.Ser1077=) rs778900289
NM_001083602.2(PTCH1):c.3251+7A>T rs374907800
NM_001083602.2(PTCH1):c.3251+9G>A rs1554690376
NM_001083602.2(PTCH1):c.327C>T (p.Leu109=) rs1554702079
NM_001083602.2(PTCH1):c.3288C>T (p.Leu1096=) rs1554689696
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3318C>T (p.Pro1106=) rs775292833
NM_001083602.2(PTCH1):c.3333C>T (p.Phe1111=) rs587780702
NM_001083602.2(PTCH1):c.3342A>G (p.Pro1114=) rs930364103
NM_001083602.2(PTCH1):c.3351+10G>C rs587780703
NM_001083602.2(PTCH1):c.3366C>T (p.Asn1122=) rs864622621
NM_001083602.2(PTCH1):c.3375C>T (p.Asn1125=) rs773389781
NM_001083602.2(PTCH1):c.3408C>G (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3411C>T (p.Ser1137=) rs200843188
NM_001083602.2(PTCH1):c.3432G>A (p.Pro1144=) rs926583525
NM_001083602.2(PTCH1):c.3435C>T (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3436G>A (p.Gly1146Ser) rs559827048
NM_001083602.2(PTCH1):c.3438C>T (p.Gly1146=) rs751560737
NM_001083602.2(PTCH1):c.3441C>T (p.His1147=) rs761797443
NM_001083602.2(PTCH1):c.3443C>T (p.Thr1148Met) rs200029534
NM_001083602.2(PTCH1):c.3444G>A (p.Thr1148=) rs143974523
NM_001083602.2(PTCH1):c.3447C>T (p.His1149=) rs760927638
NM_001083602.2(PTCH1):c.3450C>T (p.Ser1150=) rs377608291
NM_001083602.2(PTCH1):c.345G>A (p.Ser115=) rs1461606997
NM_001083602.2(PTCH1):c.3465C>G (p.Ser1155=) rs369771223
NM_001083602.2(PTCH1):c.3468C>T (p.Asp1156=) rs777377921
NM_001083602.2(PTCH1):c.3525C>T (p.Tyr1175=) rs750745538
NM_001083602.2(PTCH1):c.3543G>A (p.Ala1181=) rs772544302
NM_001083602.2(PTCH1):c.3568G>A (p.Val1190Met) rs150850039
NM_001083602.2(PTCH1):c.357C>T (p.Ala119=) rs1197767332
NM_001083602.2(PTCH1):c.3588C>T (p.Pro1196=) rs756182319
NM_001083602.2(PTCH1):c.3607-4G>A rs1060504537
NM_001083602.2(PTCH1):c.3607-8C>T rs1056411006
NM_001083602.2(PTCH1):c.3618C>T (p.Pro1206=) rs369295226
NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) rs201595274
NM_001083602.2(PTCH1):c.3648G>A (p.Pro1216=) rs754412168
NM_001083602.2(PTCH1):c.3660C>T (p.Pro1220=) rs1222530728
NM_001083602.2(PTCH1):c.3669C>T (p.Asp1223=) rs587780704
NM_001083602.2(PTCH1):c.3678C>T (p.Ser1226=) rs752197356
NM_001083602.2(PTCH1):c.3687C>T (p.Pro1229=) rs267602323
NM_001083602.2(PTCH1):c.3692G>A (p.Arg1231Gln) rs386833412
NM_001083602.2(PTCH1):c.3710G>A (p.Arg1237His) rs779365332
NM_001083602.2(PTCH1):c.3726A>G (p.Arg1242=) rs762725821
NM_001083602.2(PTCH1):c.3742C>T (p.Pro1248Ser) rs574856671
NM_001083602.2(PTCH1):c.3750C>T (p.Tyr1250=) rs778029634
NM_001083602.2(PTCH1):c.3777T>A (p.Ile1259=) rs45504199
NM_001083602.2(PTCH1):c.3828C>T (p.Arg1276=) rs576944494
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3843C>T (p.His1281=) rs774524114
NM_001083602.2(PTCH1):c.386+10G>A rs765713791
NM_001083602.2(PTCH1):c.3861G>A (p.Ala1287=) rs368110756
NM_001083602.2(PTCH1):c.3888C>T (p.Pro1296=) rs375588552
NM_001083602.2(PTCH1):c.3897C>T (p.Cys1299=) rs864622569
NM_001083602.2(PTCH1):c.3918G>T (p.Thr1306=) rs776937004
NM_001083602.2(PTCH1):c.3936T>C (p.Thr1312=) rs775499386
NM_001083602.2(PTCH1):c.3939C>T (p.Val1313=) rs149091602
NM_001083602.2(PTCH1):c.3942C>T (p.Ala1314=) rs752595145
NM_001083602.2(PTCH1):c.3951G>A (p.Pro1317=) rs56230654
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
NM_001083602.2(PTCH1):c.396A>G (p.Lys132=) rs1341335793
NM_001083602.2(PTCH1):c.3972G>A (p.Gly1324=) rs201118928
NM_001083602.2(PTCH1):c.3978C>T (p.Asn1326=) rs770479209
NM_001083602.2(PTCH1):c.3987G>A (p.Gly1329=) rs769616992
NM_001083602.2(PTCH1):c.3993C>G (p.Leu1331=) rs754826635
NM_001083602.2(PTCH1):c.3993C>T (p.Leu1331=) rs754826635
NM_001083602.2(PTCH1):c.4-1553C>T rs751905115
NM_001083602.2(PTCH1):c.4-1565C>T rs1355794957
NM_001083602.2(PTCH1):c.4-1589C>T rs368563182
NM_001083602.2(PTCH1):c.4-1616T>C rs141976046
NM_001083602.2(PTCH1):c.4-1622G>C rs587780693
NM_001083602.2(PTCH1):c.4-1634C>T rs763200358
NM_001083602.2(PTCH1):c.4-1640T>C rs368070922
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1695C>T rs761204245
NM_001083602.2(PTCH1):c.4-1700C>T rs1284183739
NM_001083602.2(PTCH1):c.4-1715C>T rs587780706
NM_001083602.2(PTCH1):c.4-1736G>A rs1354741081
NM_001083602.2(PTCH1):c.4-1745C>T rs878853848
NM_001083602.2(PTCH1):c.4-6C>T rs779129066
NM_001083602.2(PTCH1):c.4-8G>A rs750693438
NM_001083602.2(PTCH1):c.4002C>T (p.Gly1334=) rs1554688167
NM_001083602.2(PTCH1):c.4012A>G (p.Thr1338Ala) rs201873008
NM_001083602.2(PTCH1):c.4014T>C (p.Thr1338=) rs139086753
NM_001083602.2(PTCH1):c.4020C>T (p.His1340=) rs372558350
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4032G>A (p.Glu1344=) rs774528758
NM_001083602.2(PTCH1):c.4038C>G (p.Pro1346=) rs369083374
NM_001083602.2(PTCH1):c.4038C>T (p.Pro1346=) rs369083374
NM_001083602.2(PTCH1):c.4041C>T (p.His1347=) rs375040845
NM_001083602.2(PTCH1):c.4053C>T (p.His1351=) rs371960721
NM_001083602.2(PTCH1):c.4054G>A (p.Val1352Ile) rs369882883
NM_001083602.2(PTCH1):c.4077G>A (p.Ser1359=) rs756270271
NM_001083602.2(PTCH1):c.4098G>T (p.Leu1366=) rs1554688070
NM_001083602.2(PTCH1):c.4104C>T (p.Asp1368=) rs201357130
NM_001083602.2(PTCH1):c.426G>A (p.Glu142=) rs777231059
NM_001083602.2(PTCH1):c.447C>T (p.Tyr149=) rs878853858
NM_001083602.2(PTCH1):c.456+9T>C rs1554700690
NM_001083602.2(PTCH1):c.519G>A (p.Ala173=) rs775723196
NM_001083602.2(PTCH1):c.523T>C (p.Leu175=) rs1554700612
NM_001083602.2(PTCH1):c.548+10T>A rs1554700563
NM_001083602.2(PTCH1):c.54G>A (p.Gln18=) rs587780698
NM_001083602.2(PTCH1):c.579C>T (p.Phe193=) rs750313305
NM_001083602.2(PTCH1):c.585T>G (p.Pro195=) rs1554699996
NM_001083602.2(PTCH1):c.603G>A (p.Glu201=) rs374155092
NM_001083602.2(PTCH1):c.60C>A (p.Leu20=) rs1060504533
NM_001083602.2(PTCH1):c.621T>C (p.Tyr207=) rs1060504534
NM_001083602.2(PTCH1):c.657T>G (p.Ala219=) rs1060504539
NM_001083602.2(PTCH1):c.684C>T (p.Arg228=) rs145893445
NM_001083602.2(PTCH1):c.686C>T (p.Pro229Leu) rs370755364
NM_001083602.2(PTCH1):c.717C>T (p.Pro239=) rs137944857
NM_001083602.2(PTCH1):c.720C>T (p.Ala240=) rs1005939298
NM_001083602.2(PTCH1):c.732C>T (p.Asn244=) rs768166430
NM_001083602.2(PTCH1):c.747+9C>G rs878853860
NM_001083602.2(PTCH1):c.777T>C (p.Gly259=) rs149018937
NM_001083602.2(PTCH1):c.804T>C (p.Tyr268=) rs145867500
NM_001083602.2(PTCH1):c.822G>A (p.Glu274=) rs748171767
NM_001083602.2(PTCH1):c.864C>G (p.Leu288=) rs1554699558
NM_001083602.2(PTCH1):c.870-9G>A rs863224344
NM_001083602.2(PTCH1):c.882G>A (p.Leu294=) rs2066839
NM_001083602.2(PTCH1):c.885G>A (p.Gln295=) rs1554699269
NM_001083602.2(PTCH1):c.948C>T (p.Val316=) rs761718160
NM_001083602.2(PTCH1):c.978G>A (p.Ala326=) rs878853844
NM_001083602.2(PTCH1):c.979G>A (p.Ala327Thr) rs199476091
NM_001083602.2(PTCH1):c.985A>G (p.Ile329Val) rs139498131

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