ClinVar Miner

List of variants reported as likely pathogenic by Hematology laboratory,Robert Debré Hospital

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Total variants: 11
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HGVS dbSNP
NM_001102.4(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_001130004.1(ACTN1):c.1193A>C (p.Lys398Thr) rs1594768463
NM_001130004.1(ACTN1):c.1295C>T (p.Ala432Val) rs1594760140
NM_001130004.1(ACTN1):c.1348C>T (p.Arg450Cys) rs1594760036
NM_001130004.1(ACTN1):c.1349G>A (p.Arg450His) rs751173836
NM_001130004.1(ACTN1):c.1864C>T (p.His622Tyr) rs1594755688
NM_001130004.1(ACTN1):c.2243T>A (p.Met748Lys) rs1594751659
NM_001130004.1(ACTN1):c.970A>G (p.Lys324Glu) rs1594771270
NM_001130004.1(ACTN1):c.982G>A (p.Val328Met) rs1594771236
NM_001130004.1(ACTN1):c.986A>G (p.Gln329Arg) rs1594771224
NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]

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