ClinVar Miner

List of variants reported as uncertain significance for Primary dilated cardiomyopathy by Blueprint Genetics

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) rs41313840 0.00028
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_002230.4(JUP):c.1924+8G>C rs730880115 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) rs371848733 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00006
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met) rs869025472 0.00004
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) rs373475448 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr) rs761571946 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) rs397516117 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) rs371142225 0.00003
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys) rs781902168 0.00003
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394 0.00003
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) rs869025438 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn) rs730880177 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_182914.3(SYNE2):c.9392A>G (p.Asp3131Gly) rs730880220 0.00002
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly) rs730880206 0.00001
NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly) rs757577112 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) rs869025449 0.00001
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn) rs769251451 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_002471.4(MYH6):c.3133A>G (p.Lys1045Glu) rs869025474 0.00001
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) rs869025530 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys) rs727502896 0.00001
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883 0.00001
NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn) rs779054925 0.00001
NM_014476.6(PDLIM3):c.743G>A (p.Arg248His) rs377158204 0.00001
NM_015141.4(GPD1L):c.692G>A (p.Arg231His) rs869025436 0.00001
NM_020297.4(ABCC9):c.1985T>C (p.Leu662Pro) rs869025346 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_130797.4(DPP6):c.2077C>T (p.Arg693Trp) rs869025385 0.00001
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile) rs368506422 0.00001
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro) rs869025481
NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr) rs869025482
NM_000257.4(MYH7):c.475G>C (p.Asp159His) rs730880155
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr) rs730880203
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys) rs869025484
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) rs869025450
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503
NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser) rs869025361
NM_001267550.2(TTN):c.34132del (p.Leu11378fs) rs869025551
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg) rs869025538
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser) rs782654756
NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly) rs730880110
NM_001927.4(DES):c.1234G>A (p.Glu412Lys) rs869025380
NM_002471.4(MYH6):c.2538G>C (p.Glu846Asp) rs730880150
NM_002880.4(RAF1):c.1220T>A (p.Leu407His) rs869025502
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) rs730880230
NM_003476.5(CSRP3):c.49del (p.Val17fs) rs869025378
NM_004006.3(DMD):c.6118-3C>A rs730880074
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala) rs572843477
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) rs199697536
NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile) rs730880070
NM_013266.4(CTNNA3):c.2430del (p.Ala811fs) rs869025379
NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer) rs587782935
NM_014391.3(ANKRD1):c.677C>T (p.Ala226Val) rs730880050
NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His) rs869025347
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu) rs773377070
NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys) rs869025441
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) rs730880169
NM_144573.4(NEXN):c.1630del (p.Gln544fs) rs730880172
NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) rs869025455
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_182914.3(SYNE2):c.14407del (p.Ser4803fs) rs869025529
NM_182961.4(SYNE1):c.14895_14896del (p.His4965fs) rs730880219

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