ClinVar Miner

List of variants reported as uncertain significance for atrial septal defect 5 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773

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