ClinVar Miner

List of variants studied for cataract by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_000496.3(CRYBB2):c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis) rs2146095462
NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro) rs1651877337
NM_012064.4(MIP):c.506C>A (p.Ala169Asp) rs1868688639
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) rs1958822283
NM_024513.4(FYCO1):c.793dup (p.Ala265fs) rs1706240480

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