ClinVar Miner

List of variants in gene PTCH1 studied for not specified

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Gene type:
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Total variants: 116
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HGVS dbSNP
NM_001083602.2(PTCH1):c.-193G>T rs185570125
NM_001083602.2(PTCH1):c.1+18dup rs1064796211
NM_001083602.2(PTCH1):c.1017+14C>T rs367857273
NM_001083602.2(PTCH1):c.1017+15G>T rs781602634
NM_001083602.2(PTCH1):c.1036G>T (p.Ala346Ser) rs370354759
NM_001083602.2(PTCH1):c.1049C>G (p.Thr350Ser) rs201174718
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1221C>T (p.Gly407=) rs774841100
NM_001083602.2(PTCH1):c.1290C>T (p.Asn430=) rs577742581
NM_001083602.2(PTCH1):c.1305+19A>T rs201193230
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1346T>A (p.Val449Asp) rs1057518491
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1467_1468inv (p.Val490Ile) rs1064795375
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.14C>T (p.Thr5Ile) rs529720410
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.1530+16T>A rs758961945
NM_001083602.2(PTCH1):c.196+24C>T rs561263076
NM_001083602.2(PTCH1):c.196+37C>G rs543169448
NM_001083602.2(PTCH1):c.2397C>T (p.Thr799=) rs144512837
NM_001083602.2(PTCH1):c.2482G>A (p.Asp828Asn) rs56173896
NM_001083602.2(PTCH1):c.2506-11C>T rs779097397
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2601G>A (p.Ala867=) rs111446700
NM_001083602.2(PTCH1):c.2689+21A>G rs2236406
NM_001083602.2(PTCH1):c.2690-8C>T rs567994836
NM_001083602.2(PTCH1):c.2694G>A (p.Pro898=) rs377213209
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2919A>G (p.Thr973=) rs775579178
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.2952C>T (p.Pro984=) rs149398794
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.2970+34A>G rs751374954
NM_001083602.2(PTCH1):c.2971-17T>A rs375034864
NM_001083602.2(PTCH1):c.2971-5T>C rs367654039
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3093C>T (p.Thr1031=) rs141016655
NM_001083602.2(PTCH1):c.3174A>T (p.Ala1058=) rs756638660
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3195G>T (p.Val1065=) rs1267662604
NM_001083602.2(PTCH1):c.322G>A (p.Ala108Thr) rs587778633
NM_001083602.2(PTCH1):c.3237C>T (p.Phe1079=) rs200435277
NM_001083602.2(PTCH1):c.3251+11G>A rs568528640
NM_001083602.2(PTCH1):c.3252-15C>T rs755474627
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3424G>A (p.Ala1142Thr) rs945517672
NM_001083602.2(PTCH1):c.3444G>A (p.Thr1148=) rs143974523
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
NM_001083602.2(PTCH1):c.3568G>A (p.Val1190Met) rs150850039
NM_001083602.2(PTCH1):c.3606+28G>A rs200724772
NM_001083602.2(PTCH1):c.3606+32T>C rs199982439
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3678C>T (p.Ser1226=) rs752197356
NM_001083602.2(PTCH1):c.369T>C (p.His123=) rs150759973
NM_001083602.2(PTCH1):c.3710G>A (p.Arg1237His) rs779365332
NM_001083602.2(PTCH1):c.3734T>C (p.Leu1245Ser) rs1057524645
NM_001083602.2(PTCH1):c.3742C>T (p.Pro1248Ser) rs574856671
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3759C>T (p.Arg1253=) rs1554688549
NM_001083602.2(PTCH1):c.3794C>G (p.Ser1265Cys) rs150373546
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3850C>T (p.Arg1284Trp) rs140417636
NM_001083602.2(PTCH1):c.3852G>A (p.Arg1284=) rs748440992
NM_001083602.2(PTCH1):c.387-34G>C rs377379088
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3889G>A (p.Gly1297Ser) rs767625820
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3950C>T (p.Pro1317Leu) rs571030658
NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg) rs587778631
NM_001083602.2(PTCH1):c.3974G>A (p.Arg1325Gln) rs773676486
NM_001083602.2(PTCH1):c.3981C>A (p.Pro1327=) rs1057521043
NM_001083602.2(PTCH1):c.4-1624C>T rs138729094
NM_001083602.2(PTCH1):c.4-1638C>G rs1030446889
NM_001083602.2(PTCH1):c.4-1640T>C rs368070922
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1659G>A rs587778627
NM_001083602.2(PTCH1):c.4-1673C>T rs1266520658
NM_001083602.2(PTCH1):c.4-1715C>T rs587780706
NM_001083602.2(PTCH1):c.4-1727C>T rs1057522533
NM_001083602.2(PTCH1):c.4-1771_4-1763dup rs1064795042
NM_001083602.2(PTCH1):c.4-1776G>T rs1057523782
NM_001083602.2(PTCH1):c.4-1780G>A rs1057522532
NM_001083602.2(PTCH1):c.4-1782G>A rs886742178
NM_001083602.2(PTCH1):c.4-1786GGC[10] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[3] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[4] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[6] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[9] rs71366293
NM_001083602.2(PTCH1):c.4-19C>T rs886038275
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4042G>A (p.Val1348Met) rs149667902
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.4105G>A (p.Val1369Met) rs587778632
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.603G>A (p.Glu201=) rs374155092
NM_001083602.2(PTCH1):c.684C>T (p.Arg228=) rs145893445
NM_001083602.2(PTCH1):c.747+20G>A rs374618901
NM_001083602.2(PTCH1):c.747+9C>T rs878853860
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.882G>A (p.Leu294=) rs2066839
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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