ClinVar Miner

List of variants in gene PTCH1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 9q22.32(chr9:98226015-98298532)x1
NC_000009.12:g.95517088T>A
NM_000264.3(PTCH1):c.945+3_945+6delGAGT rs1064795637
NM_001083602.2(PTCH1):c.-435A>T
NM_001083602.2(PTCH1):c.1+229G>A
NM_001083602.2(PTCH1):c.1017+143C>T
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.108G>C (p.Leu36Phe) rs199522392
NM_001083602.2(PTCH1):c.1150-136C>T
NM_001083602.2(PTCH1):c.1150-2A>G rs1064793978
NM_001083602.2(PTCH1):c.1207_1225del (p.Val403fs) rs1554698587
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.126A>G (p.Ile42Met) rs144182921
NM_001083602.2(PTCH1):c.1305+1G>C rs864622293
NM_001083602.2(PTCH1):c.1305G>A (p.Gln435=) rs1085307511
NM_001083602.2(PTCH1):c.1306-1G>C rs1057518400
NM_001083602.2(PTCH1):c.1306-3T>C
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1387A>T (p.Lys463Ter) rs780434261
NM_001083602.2(PTCH1):c.1404+181A>G
NM_001083602.2(PTCH1):c.1405-2A>G rs1064793921
NM_001083602.2(PTCH1):c.1417del (p.Glu473fs) rs878853847
NM_001083602.2(PTCH1):c.1417dup (p.Glu473fs) rs878853847
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.145G>T (p.Gly49Ter) rs794727242
NM_001083602.2(PTCH1):c.1463G>A (p.Ser488Asn) rs148367880
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.196+1G>A rs1131690995
NM_001083602.2(PTCH1):c.196+212C>A
NM_001083602.2(PTCH1):c.197-172T>C
NM_001083602.2(PTCH1):c.197-231T>C
NM_001083602.2(PTCH1):c.197-276_197-275insT
NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter) rs1131690986
NM_001083602.2(PTCH1):c.2363-1G>A rs1131691700
NM_001083602.2(PTCH1):c.2363-20C>A
NM_001083602.2(PTCH1):c.2428G>T (p.Gly810Ter) rs1131691758
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) rs771732591
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2503C>T (p.Gln835Ter) rs1064796618
NM_001083602.2(PTCH1):c.2514dup (p.Gln839fs) rs143091773
NM_001083602.2(PTCH1):c.2562C>T (p.Tyr854=)
NM_001083602.2(PTCH1):c.2635C>T (p.Arg879Ter) rs1064794260
NM_001083602.2(PTCH1):c.2636G>A (p.Arg879Gln) rs201118857
NM_001083602.2(PTCH1):c.2662_2671delinsTAGT (p.Asp888_Pro891delinsTer) rs1064793991
NM_001083602.2(PTCH1):c.2701G>T (p.Glu901Ter) rs886041943
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2844del (p.Phe949fs) rs886039540
NM_001083602.2(PTCH1):c.2846_2873del (p.Phe949fs) rs886039678
NM_001083602.2(PTCH1):c.291_292insTA (p.Glu98Ter) rs1064796259
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.2971-1G>A rs1060502285
NM_001083602.2(PTCH1):c.3049G>A (p.Val1017Met) rs202052415
NM_001083602.2(PTCH1):c.3116dup (p.Thr1040fs) rs1554690484
NM_001083602.2(PTCH1):c.3244A>G (p.Ile1082Val) rs369265532
NM_001083602.2(PTCH1):c.3251+129A>G
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
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.3426C>T (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3607-197T>A
NM_001083602.2(PTCH1):c.362G>A (p.Arg121His)
NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) rs201595274
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.366_371del (p.His123_Val124del) rs1554702032
NM_001083602.2(PTCH1):c.3692G>A (p.Arg1231Gln) rs386833412
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.3762A>G (p.Arg1254=) rs371761874
NM_001083602.2(PTCH1):c.3822C>T (p.Gly1274=) rs773564643
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.386+177G>A
NM_001083602.2(PTCH1):c.387-1G>C rs1057520590
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.392G>A (p.Trp131Ter) rs1064793922
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3973C>T (p.Arg1325Trp) rs45535032
NM_001083602.2(PTCH1):c.4-1576G>T rs781768965
NM_001083602.2(PTCH1):c.4-1582G>A rs150069331
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-1655dup rs751977093
NM_001083602.2(PTCH1):c.4-1707G>T rs587780708
NM_001083602.2(PTCH1):c.4-1708G>A rs778460384
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4-217C>T
NM_001083602.2(PTCH1):c.4-75_4-58dup
NM_001083602.2(PTCH1):c.4054G>A (p.Val1352Ile) rs369882883
NM_001083602.2(PTCH1):c.408del (p.Leu136fs) rs1064794117
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.462A>G (p.Ile154Met) rs1564057952
NM_001083602.2(PTCH1):c.463G>T (p.Glu155Ter) rs1554700647
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.549-114C>T
NM_001083602.2(PTCH1):c.58_59CT[1] (p.Leu21fs) rs864622212
NM_001083602.2(PTCH1):c.619_622delinsGAT (p.Tyr207fs) rs1554699969
NM_001083602.2(PTCH1):c.624del (p.Val209fs) rs1554699964
NM_001083602.2(PTCH1):c.709G>C (p.Asp237His) rs1172719429
NM_001083602.2(PTCH1):c.869+139T>C
NM_001083602.2(PTCH1):c.869+5G>C rs372657547
NM_001083602.2(PTCH1):c.870-1G>A rs1085307752
NM_001083602.2(PTCH1):c.888dup (p.Met297fs) rs1064793474
NM_001083602.2(PTCH1):c.955A>G (p.Ile319Val) rs977358021
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.