List of variants in gene ACTN1 reported as uncertain significance for Platelet-type bleeding disorder 15

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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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.1684G>A (p.Asp562Asn)
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.2243T>A (p.Met748Lys)	rs1594751659
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.2504T>A (p.Ile835Asn)
NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)
NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser)
NM_001130004.2(ACTN1):c.340+10_340+13del
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)
NM_001130004.2(ACTN1):c.655C>A (p.Pro219Thr)
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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