ClinVar Miner

List of variants reported as pathogenic for Left ventricular noncompaction cardiomyopathy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp) rs1384829419
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.1627C>T (p.Gln543Ter) rs2100662912
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742

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