ClinVar Miner

List of variants reported as likely pathogenic for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 307
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.3(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.3(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.3(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.3(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.3(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.898-2A>G rs1553507574
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.4(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.4(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.4(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.2375G>T (p.Cys792Phe) rs886038984
NM_000138.4(FBN1):c.2419+1G>A rs1555399257
NM_000138.4(FBN1):c.2463C>G (p.Cys821Trp) rs1555399205
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.4(FBN1):c.2728+2T>C rs886038898
NM_000138.4(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.4(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.4(FBN1):c.408C>G (p.Cys136Trp) rs1555405039
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.4(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.4(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.4(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.4(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.4(FBN1):c.5155T>C (p.Cys1719Arg) rs886038838
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.4(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.4(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.4(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.6991T>A (p.Cys2331Ser) rs886038894
NM_000138.4(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.4(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.4(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.7865G>A (p.Cys2622Tyr) rs1555393880
NM_000138.4(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_000138.4(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000169.2(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.3(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000432.3(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001232.3(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070
NM_001232.3(CASQ2):c.235-2A>G rs1060502164
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter) rs1553696233
NM_001267550.2(TTN):c.53288-1G>C rs1553685927
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs) rs1553609137
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs) rs886039211
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter) rs765852996
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89197+1G>C rs1131691873
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91565-1G>A rs775248181
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_001278074.1(COL5A1):c.655-1G>C rs1554787526
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6638-2A>C rs886039200
NM_003238.5(TGFB2):c.1139G>T (p.Cys380Phe) rs1553303745
NM_003238.5(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.4(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004572.3(PKP2):c.1034+1G>A rs869025496
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1608+5G>A rs267607539
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_172056.2(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_172056.2(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) rs199473479
NM_181798.1(KCNQ1):c.1192G>A (p.Ala398Thr) rs120074188
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) rs199472801
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1400G>C (p.Arg467Pro) rs199472815
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.187C>T (p.Arg63Trp) rs199473662
NM_181798.1(KCNQ1):c.311G>T (p.Arg104Leu) rs199472709
NM_181798.1(KCNQ1):c.379G>T (p.Val127Leu) rs120074179
NM_181798.1(KCNQ1):c.521A>T (p.Asp174Val) rs1554893260
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.650C>A (p.Ala217Glu) rs199472763
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.2023+1G>A rs1553703211
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.4321G>C (p.Glu1441Gln) rs199473249
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) rs754221948
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604

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.