ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val) rs149576470 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_001276345.2(TNNT2):c.601-7G>A rs369759523 0.00004
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) rs772138289 0.00004
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg) rs759726867 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys) rs765617616 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_003673.4(TCAP):c.317G>A (p.Arg106His) rs576098128 0.00003
NM_020297.4(ABCC9):c.4512+778C>A rs572721907 0.00003
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000257.4(MYH7):c.3523C>T (p.Arg1175Trp) rs566368210 0.00002
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr) rs749017586 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000335.5(SCN5A):c.5294T>C (p.Met1765Thr) rs752476527 0.00002
NM_001035.3(RYR2):c.2360T>G (p.Leu787Arg) rs1251442610 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His) rs759347532 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NM_000256.3(MYBPC3):c.1580T>C (p.Leu527Pro) rs761466191 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_004006.3(DMD):c.395A>G (p.Gln132Arg) rs751455994 0.00001
NM_014000.3(VCL):c.1309G>A (p.Glu437Lys) rs765607137 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) rs786204345
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val) rs896073779
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2533C>A (p.Arg845Ser) rs727504345
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del) rs1595841732
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg) rs1595840788
NM_000256.3(MYBPC3):c.931T>C (p.Ser311Pro) rs397516084
NM_000257.4(MYH7):c.1013T>A (p.Val338Glu) rs397516087
NM_000257.4(MYH7):c.3062C>T (p.Thr1021Ile) rs1892569850
NM_000257.4(MYH7):c.3064A>G (p.Lys1022Glu) rs1595081245
NM_000257.4(MYH7):c.3246-3C>A rs112287277
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.556G>C (p.Val186Leu) rs786205906
NM_000257.4(MYH7):c.937A>T (p.Ile313Phe) rs1323103660
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe) rs773216333
NM_000363.5(TNNI3):c.440T>C (p.Val147Ala) rs2085712229
NM_000363.5(TNNI3):c.550-1G>A rs1555863017
NM_001035.3(RYR2):c.4452C>A (p.Asn1484Lys) rs1291160405
NM_001035.3(RYR2):c.8794T>C (p.Tyr2932His) rs1573466838
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) rs553309602
NM_001267550.2(TTN):c.8576C>T (p.Ser2859Leu) rs1574564600
NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys) rs483352833
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu) rs397516479
NM_001281740.3(FHOD3):c.1646+1G>A rs2036163874
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001330.5(CTF1):c.293C>T (p.Pro98Leu) rs1567331279
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.5687C>T (p.Ser1896Phe) rs1209697861
NM_003476.5(CSRP3):c.322del (p.Ser108fs) rs1590103399
NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly) rs770760020
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del) rs1221886757
NM_003803.4(MYOM1):c.1737dup (p.Tyr580fs) rs1598726218
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys) rs1595761404
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_007078.3(LDB3):c.689+3870C>T rs1028583921
NM_014000.3(VCL):c.863G>C (p.Ser288Thr) rs138270989
NM_016203.4(PRKAG2):c.1376C>T (p.Ala459Val) rs1806096948

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