ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1A by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_004006.3(DMD):c.3419A>T (p.His1140Leu) rs201297190 0.00005
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met) rs1167613126 0.00001
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000117.3(EMD):c.19C>T (p.Leu7Phe) rs2067873080
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val) rs876661211
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn) rs879123756
NM_001103.4(ACTN2):c.463G>A (p.Glu155Lys) rs1658537424
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn) rs766739838
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp) rs1891726522
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys) rs869025354
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) rs1238451971
NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr) rs546434497
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp) rs1649751729
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr) rs879254162

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