List of variants in gene combination ACTC1, GJD2-DT reported as likely pathogenic for not provided

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	rs121912673	0.00003
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)	rs121912674
NM_005159.5(ACTC1):c.275_277del (p.Phe92del)	rs730880388
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)	rs397517059
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)	rs2140431879
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)	rs727504308
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	rs1555418785
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)	rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)	rs397517071
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr)	rs730880401
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	rs727504379
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)	rs730880410
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)	rs730880406

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