ClinVar Miner

List of variants reported as uncertain significance for atrial septal defect 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659

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