List of variants in gene combination ACTC1, GJD2-DT reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	rs2307493	0.02329
NM_005159.5(ACTC1):c.454+9G>A	rs148695567	0.00237
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)	rs149432225	0.00008
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)	rs142839840	0.00004
NM_005159.5(ACTC1):c.270C>T (p.His90=)	rs138812333	0.00003
NM_005159.5(ACTC1):c.*1G>T	rs1226132498
NM_005159.5(ACTC1):c.1022_1025del (p.Val341fs)
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser)	rs1555418921
NM_005159.5(ACTC1):c.149G>C (p.Gly50Ala)
NM_005159.5(ACTC1):c.454+8G>T
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)	rs1891726522
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)	rs1595760799
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	rs1555418785
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)	rs2504177659
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)	rs869025354
NM_005159.5(ACTC1):c.990+6G>T

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