ClinVar Miner

List of variants reported as pathogenic for posterior polymorphous corneal dystrophy 3 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter) rs2139794959
NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu) rs2538531589
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter) rs1458928910
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) rs1592143384

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