ClinVar Miner

List of variants in gene ACTN1 reported as uncertain significance for blood platelet disease

Included ClinVar conditions (105):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.676+9C>T rs202246872 0.00063
NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile) rs1371015727 0.00002
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) rs387907347 0.00001
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) rs2140158660
NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro) rs2140158523
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) rs1454176065
NM_001130004.2(ACTN1):c.1600G>C (p.Asp534His) rs1594758027
NM_001130004.2(ACTN1):c.1684G>A (p.Asp562Asn)
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys) rs867564562
NM_001130004.2(ACTN1):c.1973T>C (p.Ile658Thr)
NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser) rs759548966
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) rs1594751712
NM_001130004.2(ACTN1):c.2252T>C (p.Phe751Ser)
NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)
NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr) rs1566588502
NM_001130004.2(ACTN1):c.2474G>A (p.Arg825His)
NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)
NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg) rs192640536
NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser)
NM_001130004.2(ACTN1):c.340+10_340+13del
NM_001130004.2(ACTN1):c.415A>G (p.Ile139Val) rs1594803107
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)
NM_001130004.2(ACTN1):c.652A>G (p.Ile218Val) rs1594790025
NM_001130004.2(ACTN1):c.715A>G (p.Met239Val) rs2140240626
NM_001130004.2(ACTN1):c.767A>C (p.Glu256Ala)
NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr) rs2140159523

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