List of variants in gene ACTL6B reported by SIB Swiss Institute of Bioinformatics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	rs1584466132	0.00001
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	rs757603505	0.00001
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)	rs1562848556	0.00001
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	rs955171017
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)	rs1562851259
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)	rs929755522
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)	rs141640000

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