ClinVar Miner

List of variants reported as uncertain significance for Primary familial dilated cardiomyopathy

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) rs71579375 0.00013
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) rs545675333 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) rs776550479 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln) rs139539832 0.00002
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) rs1185476843 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_014000.3(VCL):c.163G>T (p.Val55Phe) rs755441334 0.00001
NM_020297.4(ABCC9):c.2190C>A (p.His730Gln) rs771887289 0.00001
NM_020297.4(ABCC9):c.337G>A (p.Val113Ile) rs200723629 0.00001
NM_170707.4(LMNA):c.*722T>C rs921268252 0.00001
GRCh37/hg19 17p13.2(chr17:3394299-3632836)
NM_000116.5(TAFAZZIN):c.699+5G>A rs1603381866
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) rs397516016
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) rs771522982
NM_000335.5(SCN5A):c.4165A>G (p.Thr1389Ala) rs1553695261
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg) rs1386204884
NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro) rs878854252
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr) rs1598826629
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002471.4(MYH6):c.2500C>T (p.Leu834Phe) rs1314476937
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys) rs753639717
NM_004006.3(DMD):c.4428G>T (p.Met1476Ile) rs745757372
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp) rs1060502812
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del) rs763170019
NM_004415.4(DSP):c.1357C>T (p.Pro453Ser) rs1554106845
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_014000.3(VCL):c.2935A>G (p.Lys979Glu) rs1591718331
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) rs1307997067
NM_032578.4(MYPN):c.109C>T (p.Pro37Ser) rs1048512621
NM_032578.4(MYPN):c.1859C>G (p.Thr620Ser) rs958954733
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) rs794729091
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys) rs1553262031
NM_170707.4(LMNA):c.611T>A (p.Leu204Gln) rs1553265180

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