ClinVar Miner

List of variants studied for cataract by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)
NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
NM_005208.5(CRYBA1):c.501-2_522del

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