ClinVar Miner

List of variants reported as likely pathogenic for atrioventricular septal defect 4 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.618A>G (p.Val206=) rs1405855570 0.00001
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp) rs2130313407

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