ClinVar Miner

List of variants reported as uncertain significance for Sudden unexplained death by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala) rs778178863 0.00002
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys) rs1339855749 0.00002
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_033118.4(MYLK2):c.398C>T (p.Ala133Val) rs761688232 0.00001
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) rs794728398
NM_000256.3(MYBPC3):c.2341A>G (p.Ser781Gly) rs2095884011
NM_000335.5(SCN5A):c.4922G>A (p.Gly1641Glu) rs199473624
NM_001035.3(RYR2):c.11146G>A (p.Glu3716Lys) rs1573821155
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.995A>G (p.Glu332Gly) rs1758866750
NM_017636.4(TRPM4):c.1004T>C (p.Ile335Thr) rs1600421310
NM_198060.4(NRAP):c.3866A>G (p.Glu1289Gly) rs755181817

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