ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val) rs751145927 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_004006.3(DMD):c.3419A>T (p.His1140Leu) rs201297190 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1699-7T>C rs771074100 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met) rs1167613126 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000117.3(EMD):c.19C>T (p.Leu7Phe) rs2067873080
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val) rs876661211
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn) rs879123756
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys) rs1555864366
NM_001103.4(ACTN2):c.463G>A (p.Glu155Lys) rs1658537424
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe) rs2142567239
NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)
NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) rs74176588
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter) rs2048015439
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter) rs200717463
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs) rs1709445083
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) rs794729339
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs) rs1759527886
NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn) rs766739838
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp) rs1891726522
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys) rs869025354
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr) rs2128099721
NM_012340.5(NFATC2):c.*71T>G rs377609235
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) rs2116916386
NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) rs1553974835
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) rs1238451971
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr) rs546434497
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp) rs1649751729
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1070A>T (p.Asp357Val) rs1131690785
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr) rs879254162
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.133T>C (p.Tyr45His) rs1649714371
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1488G>C (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) rs58362413
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1608+2T>A rs2102896324
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1641del (p.Thr548fs)
NM_170707.4(LMNA):c.1678G>A (p.Asp560Asn) rs1651791067
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.193G>C (p.Glu65Gln) rs1168314722
NM_170707.4(LMNA):c.1969-2A>T rs1572370360
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.370G>A (p.Glu124Lys) rs2102865393
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.575A>T (p.Asp192Val) rs57045855
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg) rs1553265180
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.662_663insAGCTGCGTGAGACCAAGCG (p.Arg221_His222insAlaAlaTer)
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile) rs1651393059
NM_170707.4(LMNA):c.673del (p.Arg225fs)
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.810+17G>A rs771192755
NM_170707.4(LMNA):c.872A>T (p.Glu291Val)
NM_170707.4(LMNA):c.890T>A (p.Ile297Asn) rs1060502212
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.4(LMNA):c.937-5T>C rs1001248677
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del)
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_170707.4(LMNA):c.992G>T (p.Arg331Leu) rs59301204
NM_182961.4(SYNE1):c.2444T>C (p.Ile815Thr) rs769963625

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.