ClinVar Miner

List of variants reported as pathogenic for corneal disorder by Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001143981.2(CHRDL1):c.229C>T (p.Arg77Ter) rs775515705 0.00001
NM_001143981.2(CHRDL1):c.1123C>T (p.Gln375Ter) rs2148409748
NM_001143981.2(CHRDL1):c.1156+1G>T rs2148409694
NM_001143981.2(CHRDL1):c.301+2T>G rs587776868
NM_001143981.2(CHRDL1):c.483dup (p.Lys162fs) rs2148463846
NM_001143981.2(CHRDL1):c.94+1G>A rs2090111362
NM_001143981.2(CHRDL1):c.976A>T (p.Lys326Ter) rs2148418538

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