ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.201+119T>A rs28475503 0.02067
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.*1+229G>A rs111532669 0.01820
NM_000264.5(PTCH1):c.1602+181A>G rs2277183 0.01724
NM_001083603.3(PTCH1):c.-86A>T rs142761971 0.01556
NM_000264.5(PTCH1):c.*1535T>C rs112320257 0.01438
NM_000264.5(PTCH1):c.*1545T>C rs113253600 0.01417
NM_000264.5(PTCH1):c.1603-246C>T rs76556801 0.01196
NC_000009.12:g.95517108C>T rs151039474 0.01024
NM_001083603.3(PTCH1):c.-132G>A rs118133906 0.01024
NM_000264.5(PTCH1):c.945+112G>A rs45619434 0.00892
NM_000264.5(PTCH1):c.3306+316C>T rs73654562 0.00882
NM_000264.5(PTCH1):c.1215+143C>T rs55986818 0.00871
NM_000264.5(PTCH1):c.1215+212A>G rs56372911 0.00776
NM_000264.5(PTCH1):c.1067+299C>T rs55773343 0.00754
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000264.5(PTCH1):c.1729-197G>C rs147497556 0.00682
NM_000264.5(PTCH1):c.-267C>T rs562807559 0.00538
NM_000264.5(PTCH1):c.*85G>A rs147428149 0.00500
NM_000264.5(PTCH1):c.394+215G>C rs569338456 0.00473
NM_000264.5(PTCH1):c.3805-166G>A rs56222079 0.00437
NM_000264.5(PTCH1):c.1729-322C>T rs140080993 0.00436
NM_000264.5(PTCH1):c.-341A>C rs551570374 0.00432
NM_000264.5(PTCH1):c.2703+255G>A rs77421950 0.00409
NM_000264.5(PTCH1):c.3450-132T>G rs56386406 0.00393
NM_000264.5(PTCH1):c.3550-159_3550-157dup rs55761380 0.00391
NM_000264.5(PTCH1):c.2887+182C>T rs55787302 0.00384
NM_000264.5(PTCH1):c.3549+135G>A rs55758638 0.00383
NM_000264.5(PTCH1):c.585-63C>T rs2066833 0.00377
NM_000264.5(PTCH1):c.3549+38G>T rs200210856 0.00330
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.*1+245G>A rs189547730 0.00118
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00049
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00048
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser) rs201174718 0.00009
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.2704-11C>T rs779097397 0.00005
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100 0.00001
NM_000264.5(PTCH1):c.1503+19A>T rs201193230 0.00001
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile) rs529720410 0.00001
NM_000264.5(PTCH1):c.2561-20C>A rs1361292543 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=) rs752197356 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NC_000009.12:g.95517248G>C rs188897755
NM_000264.5(PTCH1):c.*1+20dup rs1064796211
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.201+103AC[6] rs962367211
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.2888-284del rs56213847
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.3393G>T (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3550-115G>T rs56021411
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.394+212C>A rs191867316
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.945+9C>T rs878853860
NM_001083603.3(PTCH1):c.157G>T (p.Glu53Ter) rs185570125

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