ClinVar Miner

List of variants reported as likely pathogenic for cataract by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_000093.5(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_005360.5(MAF):c.941A>C (p.His314Pro) rs1913779276

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