List of variants in gene combination ACTC1, GJD2-DT reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	rs397517057	0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)	rs730880387	0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)	rs142839840	0.00004
NM_005159.5(ACTC1):c.*5C>G	rs756594449	0.00002
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)	rs746748461	0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)	rs750951965	0.00002
NM_005159.5(ACTC1):c.-12A>G	rs372036883	0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)	rs370256882	0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)	rs878854753	0.00001
NM_005159.5(ACTC1):c.454+5G>C	rs756249146	0.00001
NM_005159.5(ACTC1):c.455-6G>A	rs1359050330	0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)	rs1469206760	0.00001
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val)	rs749354463	0.00001
NM_005159.5(ACTC1):c.*1G>A
NM_005159.5(ACTC1):c.*1G>T	rs1226132498
NM_005159.5(ACTC1):c.-14G>C	rs2140433368
NM_005159.5(ACTC1):c.-1G>A	rs748380799
NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly)	rs1891681614
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)	rs2140428952
NM_005159.5(ACTC1):c.130-11dup	rs2140432284
NM_005159.5(ACTC1):c.130-13T>A	rs1891753477
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)	rs944740404
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys)	rs1595761404
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)	rs397517061
NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys)	rs1891746032
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)	rs1595761325
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)	rs1257864393
NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter)	rs2140430970
NM_005159.5(ACTC1):c.523dup (p.His175fs)	rs730880389
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)	rs1891723828
NM_005159.5(ACTC1):c.617-7T>A	rs750536667
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu)	rs2140430478
NM_005159.5(ACTC1):c.809-14_809-11delinsAA
NM_005159.5(ACTC1):c.809-1G>A	rs1566967122
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser)	rs1566967118
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)

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