ClinVar Miner

List of variants studied for cataract by Mendelics

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_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005360.5(MAF):c.-30GGC[4] rs5818251
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu) rs2109127017

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