ClinVar Miner

List of variants reported as likely benign for cardiomyopathy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00183
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_000256.3(MYBPC3):c.506-17C>T rs561595897 0.00016
NM_020774.4(MIB1):c.1092+3A>G rs372212766 0.00016
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_032578.4(MYPN):c.1725A>G (p.Lys575=) rs143213775 0.00009
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) rs137948709 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=) rs147329431 0.00006
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=) rs371488508 0.00004
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) rs200830541 0.00004
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00004
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.654+18G>A rs758836172 0.00003
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000432.4(MYL2):c.222G>A (p.Pro74=) rs372644111 0.00002
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001134363.3(RBM20):c.3316+9C>T rs796080099 0.00001
NM_001134363.3(RBM20):c.3378G>A (p.Val1126=) rs796430041 0.00001
NM_016599.5(MYOZ2):c.377-5C>T rs752100244 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=) rs796631295
NM_001134363.3(RBM20):c.1430-20_1430-19del rs749067157
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) rs1554842740
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=) rs184347775

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