List of variants in gene ACTN2 reported as uncertain significance by Blueprint Genetics

Minimum submission review status:		Collection method:
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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)	rs200854335	0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)	rs777124854	0.00005
NM_001103.4(ACTN2):c.1070G>A (p.Arg357His)	rs730880041	0.00004
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp)	rs559395092	0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)	rs150021739	0.00003
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)	rs1150181	0.00002
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys)	rs780431842	0.00001
NM_001103.4(ACTN2):c.193G>A (p.Asp65Asn)	rs781118555	0.00001
NM_001103.4(ACTN2):c.698-1179G>A	rs1317190224	0.00001
NM_001103.4(ACTN2):c.1216T>G (p.Phe406Val)	rs1572135580
NM_001103.4(ACTN2):c.1745T>C (p.Val582Ala)	rs1572143387
NM_001103.4(ACTN2):c.2336G>A (p.Arg779Lys)	rs779870295
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu)	rs772409484
NM_001103.4(ACTN2):c.2416C>T (p.Gln806Ter)	rs772733279
NM_001103.4(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs)	rs1553305275
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)	rs727505146
NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	rs730880040
NM_001103.4(ACTN2):c.902T>A (p.Ile301Asn)	rs766129106

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