ClinVar Miner

List of variants reported as uncertain significance for Familial restrictive cardiomyopathy

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_000363.5(TNNI3):c.-85A>C rs186540595 0.00142
NM_000363.5(TNNI3):c.-103C>T rs557391836 0.00102
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) rs886045828 0.00003
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001267550.2(TTN):c.25064-4A>G rs747247583 0.00001
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val) rs762577093 0.00001
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_000363.5(TNNI3):c.-133G>T rs886054636
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
NM_001267550.2(TTN):c.39709+1G>T rs1576940155
NM_001276345.2(TNNT2):c.-22G>T rs886045829
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp) rs1569732779

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