ClinVar Miner

List of variants in gene DSP reported as pathogenic for hereditary epidermal appendage anomaly

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NC_000006.11:g.(?_7532151)_(7559633_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.11:g.(?_7583166)_(7587903_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NM_004415.2(DSP):c.2131_2132delAG rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1232del (p.Leu411fs)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
NM_004415.4(DSP):c.1304_1305dup (p.Gln436fs)
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1478G>A (p.Trp493Ter)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1482C>A (p.Tyr494Ter)
NM_004415.4(DSP):c.151C>T (p.Gln51Ter) rs794728156
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.169_170+13del rs2113629234
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) rs606231293
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.1988_1998del (p.Lys663fs)
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter) rs121912995
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.202C>T (p.Gln68Ter)
NM_004415.4(DSP):c.2040_2043del (p.Glu680fs)
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086C>T (p.Gln696Ter)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2161G>T (p.Glu721Ter)
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter) rs121912994
NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer) rs794728135
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2601G>A (p.Trp867Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2735T>A (p.Leu912Ter)
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2854G>T (p.Glu952Ter)
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3038_3039del (p.Tyr1013fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3226del (p.Ala1077fs)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter) rs1131691673
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3391dup (p.Arg1131fs)
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3529_3530dup (p.Leu1178fs)
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3619delinsGGG (p.Arg1207fs)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3889C>T (p.Gln1297Ter)
NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs) rs1581816570
NM_004415.4(DSP):c.3905_3906dup (p.Ser1303fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3932_3936del (p.Gln1311fs)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4219G>T (p.Glu1407Ter)
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4324C>T (p.Gln1442Ter)
NM_004415.4(DSP):c.4336del (p.Gln1446fs)
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
NM_004415.4(DSP):c.4778_4790del (p.Lys1593fs)
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4850dup (p.Gln1618fs)
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5119C>T (p.Gln1707Ter)
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5135del (p.Asn1712fs)
NM_004415.4(DSP):c.5146G>T (p.Glu1716Ter)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.51del (p.Met17fs)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5375T>A (p.Leu1792Ter)
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5783T>G (p.Leu1928Ter)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5834_5835del (p.Arg1945fs)
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.620G>A (p.Trp207Ter)
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6473del (p.Leu2158fs)
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6498dup (p.Asp2167fs)
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6536del (p.Lys2179fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6563_6566dup (p.Cys2190fs)
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6693_6699del (p.Thr2232fs)
NM_004415.4(DSP):c.6695_6696del (p.Thr2232fs)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6792C>A (p.Tyr2264Ter)
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7054C>T (p.Gln2352Ter)
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7127_7128del (p.Gly2376fs)
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7470T>G (p.Tyr2490Ter)
NM_004415.4(DSP):c.748C>T (p.Gln250Ter) rs2113666898
NM_004415.4(DSP):c.7498del (p.Glu2500fs)
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7756C>T (p.Arg2586Ter)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7780del (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8111dup (p.Lys2705fs)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8148dup (p.Trp2717fs)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.855G>A (p.Trp285Ter)
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.861T>G (p.Asn287Lys) rs121912993
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.972del (p.Glu325fs)
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)

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.