ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1A

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys) rs1555864366
NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe) rs2142567239
NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)
NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) rs74176588
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)
NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)
NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs) rs1759527886
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr) rs2128099721
NM_012340.5(NFATC2):c.*71T>G rs377609235
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) rs2116916386
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1608+2T>A rs2102896324
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1969-2A>T rs1572370360
NM_170707.4(LMNA):c.370G>A (p.Glu124Lys) rs2102865393
NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.575A>T (p.Asp192Val) rs57045855
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg) rs1553265180
NM_170707.4(LMNA):c.662_663insAGCTGCGTGAGACCAAGCG (p.Arg221_His222insAlaAlaTer)
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile) rs1651393059
NM_170707.4(LMNA):c.673del (p.Arg225fs)
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_170707.4(LMNA):c.872A>T (p.Glu291Val)
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.4(LMNA):c.992G>T (p.Arg331Leu) rs59301204
NM_182961.4(SYNE1):c.2444T>C (p.Ile815Thr) rs769963625

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