ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Loeys Lab, Universiteit Antwerpen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu) rs769210828 0.00002
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_014000.3(VCL):c.1961A>C (p.Asn654Thr) rs1591709946 0.00001
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu) rs768208960 0.00001
NM_000257.4(MYH7):c.1997A>G (p.His666Arg) rs769919688
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg) rs2135121307
NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter) rs2154317682
NM_001267550.2(TTN):c.53918del (p.Gly17973fs) rs1486129583
NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter) rs2154173235
NM_001267550.2(TTN):c.80514del (p.Val26839fs) rs2154164951
NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter) rs2154160857
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892

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