ClinVar Miner

List of variants studied for cataract by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012064.4(MIP):c.694G>C (p.Glu232Gln) rs773085032 0.00001
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) rs2146095454

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