ClinVar Miner

List of variants reported as uncertain significance for Left ventricular noncompaction cardiomyopathy by Klaassen Lab, Charite University Medicine Berlin

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_004100.5(EYA4):c.971-3T>C rs377224718 0.00002
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_005188.4(CBL):c.805A>G (p.Met269Val) rs372452974 0.00001
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000257.4(MYH7):c.475G>A (p.Asp159Asn) rs730880155
NM_022114.4(PRDM16):c.1110C>A (p.Asp370Glu) rs777550737

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