ClinVar Miner

List of variants in gene ZNF469 reported as pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs) rs1484586294
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter) rs1906110243
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter) rs387907063
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) rs1597210953
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs) rs2142314304

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