ClinVar Miner

List of variants reported as pathogenic for corneal disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs) rs1057516043
NM_001367624.2(ZNF469):c.3491del (p.Gly1164fs)
NM_001367624.2(ZNF469):c.612_619dup (p.Ala207fs)

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