ClinVar Miner

List of variants reported as pathogenic for dilated cardiomyopathy 1A

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) rs794729339
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) rs1553974835
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) rs58362413
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1698+13C>A rs80338938
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) rs59684335

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