ClinVar Miner

List of variants in gene DSP reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 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.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.(?_7552967)_(7579627_?)del
NC_000006.11:g.(?_7565582)_(7568149_?)del
NC_000006.11:g.(?_7576220)_(7581055_?)del
NM_001008844.3(DSP):c.3582+1242dup rs727503003
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.4(DSP):c.1045-1G>C
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter) rs1561686893
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.1141-1G>A rs2113673067
NM_004415.4(DSP):c.1141-2A>G rs794728111
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1420-1G>T rs1060500609
NM_004415.4(DSP):c.1420-2A>G
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe) rs1240326550
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.1574+1G>C rs1758971797
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) rs727504498
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.169_170+13del rs2113629234
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.1701+2T>C
NM_004415.4(DSP):c.1702-1G>T
NM_004415.4(DSP):c.171T>A (p.Cys57Ter) rs1758487010
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1903+1G>T
NM_004415.4(DSP):c.1904-2A>G rs2113679702
NM_004415.4(DSP):c.208_209dup (p.Ile71fs) rs727502993
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2131-3_2131del
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2200del (p.Arg734fs) rs2113683177
NM_004415.4(DSP):c.226C>T (p.Gln76Ter) rs1554105614
NM_004415.4(DSP):c.2297+2T>C rs796218194
NM_004415.4(DSP):c.2298-1G>C rs1417627909
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2436+1G>A rs2113684305
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2614A>T (p.Lys872Ter)
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.273del (p.Glu92fs) rs794728136
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2794-1G>A rs1759258675
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2877+1G>A rs2113687794
NM_004415.4(DSP):c.2877+2T>C rs2113687807
NM_004415.4(DSP):c.2907del (p.Ser970fs) rs2113688929
NM_004415.4(DSP):c.2920del (p.Thr974fs) rs727505260
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro) rs397516929
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3165del (p.Asn1055fs) rs2113691213
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
NM_004415.4(DSP):c.3434del (p.Ala1145fs) rs1581815603
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3617del (p.Asn1205_Leu1206insTer)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter) rs1581816089
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
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.422+1G>A
NM_004415.4(DSP):c.422+2T>G rs2113657846
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.423-2A>G rs2113659544
NM_004415.4(DSP):c.4332dup (p.Gln1445fs) rs1561698714
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) rs727504738
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5051A>G (p.His1684Arg) rs1135401735
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) rs397516945
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs) rs727502994
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.597+1G>A rs2113660108
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs) rs1759527886
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs) rs1759529582
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6451dup (p.Arg2151fs) rs1759533568
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs) rs1561702549
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.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs) rs2113701305
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
NM_004415.4(DSP):c.777+2T>C
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) rs1163244913
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter) rs2113703930
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter) rs2113704410
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.940-2del rs2113670901
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287

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