ClinVar Miner

List of variants reported as benign for atrioventricular septal defect 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_005257.6(GATA6):c.1302+20C>T rs56314574 0.02932
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_005257.6(GATA6):c.222G>A (p.Pro74=) rs374402554 0.00327
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_005257.6(GATA6):c.1350A>G (p.Thr450=) rs61731977 0.00093
NM_005257.6(GATA6):c.1135+9C>G rs76308670 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_005257.6(GATA6):c.1516+17G>A rs371870484 0.00031
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_005257.6(GATA6):c.1620+6T>C rs200795241 0.00008
NM_005257.6(GATA6):c.1516+19C>T rs199658633 0.00004
NM_005257.6(GATA6):c.1572T>C (p.Asp524=) rs199684979 0.00003
NM_005257.6(GATA6):c.1725C>T (p.Ala575=) rs200788504 0.00001
NM_005257.6(GATA6):c.1653G>A (p.Glu551=) rs564934973
NM_005257.6(GATA6):c.750C>A (p.Gly250=) rs1024528816

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