ClinVar Miner

List of variants studied for dilated cardiomyopathy 1A

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_000116.5(TAZ):c.657C>G (p.Asp219Glu)
NM_000117.3(EMD):c.19C>T (p.Leu7Phe)
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val) rs876661211
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn)
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959
NM_001103.4(ACTN2):c.463G>A (p.Glu155Lys)
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602
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_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)
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.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_001282625.2(LMNA):c.-206-17C>T
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
NM_002471.3(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328
NM_004006.2(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099
NM_004006.2(DMD):c.3419A>T (p.His1140Leu) rs201297190
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)
NM_004281.3(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.568_577del (p.Ser190fs)
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs)
NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn)
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010
NM_020297.3(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671
NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) rs1553974835
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)
NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr)
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311
NM_133378.4(TTN):c.30709+1G>A rs577363824
NM_133378.4(TTN):c.59644+1G>A rs758279518
NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile) rs200442502
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met)
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp)
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
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.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
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.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
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.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1698+13C>A rs80338938
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.193G>C (p.Glu65Gln)
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622
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.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
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.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848
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.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300
NM_172244.3(SGCD):c.771A>C (p.Ter257Cys) rs376317697
NM_198056.2(SCN5A):c.1109C>T (p.Thr370Met) rs199473099

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