ClinVar Miner

List of variants in gene PTCH1 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24468
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.20192
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_000264.5(PTCH1):c.*2275T>A rs28380046 0.09501
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06717
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000264.5(PTCH1):c.*1905C>G rs113213198 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04606
NM_000264.5(PTCH1):c.*1709G>A rs73540175 0.04602
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
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.*2070C>G rs142942544 0.01241
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000264.5(PTCH1):c.*3341T>C rs138499623 0.00884
NM_000264.5(PTCH1):c.*851G>C rs73540186 0.00827
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000264.5(PTCH1):c.*1066A>C rs185406054 0.00673
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000264.5(PTCH1):c.*3157G>A rs118174136 0.00628
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.*801C>T rs114243832 0.00412
NM_000264.5(PTCH1):c.*780C>T rs75765727 0.00386
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.*1708C>T rs146131736 0.00252
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
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.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.1503+12G>A rs368083214 0.00056
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.*450A>C rs192994934 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.*1889G>A rs565918654 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.*3337T>C rs551093780 0.00032
NM_000264.5(PTCH1):c.*478A>G rs937053306 0.00031
NM_000264.5(PTCH1):c.2887+10G>A rs202081420 0.00031
NM_000264.5(PTCH1):c.*787C>T rs144656847 0.00030
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_000264.5(PTCH1):c.*168C>A rs769353632 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.*750G>A rs777077097 0.00017
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.*3272C>T rs963000528 0.00016
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.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.*859C>T rs775198573 0.00012
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.*2644A>C rs773680534 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 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.*2795G>T rs773035324 0.00009
NM_000264.5(PTCH1):c.*2737C>A rs1038475537 0.00008
NM_000264.5(PTCH1):c.*762G>C rs763571205 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.*1648A>G rs1057515713 0.00007
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.*623C>T rs776158552 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.*1153C>G rs770443972 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_000264.5(PTCH1):c.*153T>C rs576864680 0.00003
NM_000264.5(PTCH1):c.*2180C>T rs1357696436 0.00003
NM_000264.5(PTCH1):c.*3111G>A rs1395471972 0.00003
NM_000264.5(PTCH1):c.*556G>A rs964764151 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 0.00003
NM_000264.5(PTCH1):c.*1167A>G rs192352160 0.00002
NM_000264.5(PTCH1):c.*1220A>G rs930382710 0.00002
NM_000264.5(PTCH1):c.*1885G>A rs892705165 0.00002
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met) rs772406487 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu) rs775192032 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 0.00001
NM_000264.5(PTCH1):c.*2001C>T rs531230280 0.00001
NM_000264.5(PTCH1):c.*2096G>A rs1331556943 0.00001
NM_000264.5(PTCH1):c.*3080G>T rs1006981555 0.00001
NM_000264.5(PTCH1):c.*3209T>C rs757611119 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000264.5(PTCH1):c.*105G>A rs142840663
NM_000264.5(PTCH1):c.*1075A>C rs1020973772
NM_000264.5(PTCH1):c.*1256C>T rs187832324
NM_000264.5(PTCH1):c.*1353T>C rs1837774312
NM_000264.5(PTCH1):c.*1413C>G rs1057515714
NM_000264.5(PTCH1):c.*1638A>G rs1039220329
NM_000264.5(PTCH1):c.*1757C>T rs1837735115
NM_000264.5(PTCH1):c.*1866TG[10] rs59205702
NM_000264.5(PTCH1):c.*1866TG[12] rs59205702
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*1893GT[4] rs531572088
NM_000264.5(PTCH1):c.*2146A>G rs538345753
NM_000264.5(PTCH1):c.*2263T>A rs1837680803
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.*2414C>G rs776036229
NM_000264.5(PTCH1):c.*248C>T rs576591779
NM_000264.5(PTCH1):c.*2988TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.2561-3T>C rs2136690024
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly) rs199476093
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs) rs1554691658
NM_000264.5(PTCH1):c.3272_3273del (p.Gly1091fs)
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu) rs1838213882
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.394G>A (p.Val132Ile)
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.563dup (p.His189fs)
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083603.3(PTCH1):c.74del (p.Pro25fs) rs1350435311

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