ClinVar Miner

Variants in gene GATA4 with conflicting interpretations "benign" and "pathogenic"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163

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