List of variants in gene combination ACTC1, GJD2-DT reported as likely pathogenic for atrial septal defect

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.941G>A (p.Arg314His)	rs121912673	0.00003
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)	rs2140432240
NM_005159.5(ACTC1):c.312del (p.Thr105fs)	rs1891747424
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)	rs1595761333
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)	rs2140430645
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)	rs2140430561
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)

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