ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as pathogenic for atrial septal defect 5

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) rs387906585
NM_005159.5(ACTC1):c.373A>G (p.Met125Val) rs121912677
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629

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