ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489 0.00022
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met) rs199768217 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) rs369587958 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp) rs371370857 0.00003
NM_001386795.1(DTNA):c.68-7G>A rs372126412 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val) rs776961989 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) rs1057518771 0.00001
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) rs730880692 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) rs11570113 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_000371.4(TTR):c.69+5G>C rs1221178462 0.00001
NM_001018005.2(TPM1):c.115-213G>C rs979999394 0.00001
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) rs959605686 0.00001
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr) rs1263073740 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002633.3(PGM1):c.873+6T>C rs368068987 0.00001
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp) rs770516401 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) rs781539081 0.00001
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn) rs753255714 0.00001
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys) rs772460000 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_032578.4(MYPN):c.1594G>A (p.Val532Met) rs760362375 0.00001
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly) rs765353232 0.00001
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu) rs1323584158 0.00001
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000238.4(KCNH2):c.1394T>C (p.Val465Ala) rs1057518876
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val) rs1356431718
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) rs2095877651
NM_000257.4(MYH7):c.1224T>A (p.Asn408Lys) rs1057518877
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.5122G>A (p.Glu1708Lys) rs1057518857
NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter) rs1555335933
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val) rs1057518784
NM_000371.4(TTR):c.203A>C (p.Lys68Thr) rs2073510120
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr) rs771808028
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln) rs2035303241
NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn) rs1343107860
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del) rs1695350400
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.1709-15T>A rs1663379209
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val) rs1232224119
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser) rs1687847434
NM_001105206.3(LAMA4):c.4134-1G>C rs886039116
NM_001105206.3(LAMA4):c.4665+6T>C rs1778270384
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.46C>A (p.Gln16Lys) rs1660718949
NM_001386795.1(DTNA):c.1743+2825dup rs778058745
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val) rs758056957
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly) rs371483562
NM_001458.5(FLNC):c.7251+15T>G rs1585170629
NM_001458.5(FLNC):c.790C>G (p.Pro264Ala) rs1808143178
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp) rs750629528
NM_001927.4(DES):c.428T>C (p.Leu143Pro) rs1419950518
NM_001943.5(DSG2):c.2836A>G (p.Met946Val) rs770026700
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.73_88del (p.Gly25fs) rs1916687478
NM_002471.4(MYH6):c.5364G>A (p.Met1788Ile) rs1890963680
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_003476.5(CSRP3):c.-28-17G>T rs1850633333
NM_004006.3(DMD):c.2200T>C (p.Trp734Arg) rs794727204
NM_004006.3(DMD):c.2451G>C (p.Gln817His) rs1468177610
NM_004006.3(DMD):c.649+26G>T rs2077186133
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) rs1801519948
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.712-221T>C rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) rs1803104915
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter) rs1724006429
NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser) rs1846936455
NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys) rs2076650862
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly) rs1643176774
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.3158+14G>A rs2043590750
NM_033118.4(MYLK2):c.1402A>G (p.Met468Val) rs2062304337
NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs) rs1555933313
NM_170707.4(LMNA):c.1488G>C (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1678G>A (p.Asp560Asn) rs1651791067
NM_170707.4(LMNA):c.937-5T>C rs1001248677
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu) rs764566778
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys) rs2096903791
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys) rs2096938300

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