ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_004281.3(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.568_577del (p.Ser190fs)
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs)
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_133378.4(TTN):c.30709+1G>A rs577363824
NM_133378.4(TTN):c.59644+1G>A rs758279518
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.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236
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.611T>G (p.Leu204Arg) rs1553265180
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262

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