ClinVar Miner

List of variants reported as pathogenic for cataract 10 multiple types

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005208.5(CRYBA1):c.215+1G>C rs1264025914
NM_005208.5(CRYBA1):c.215+1G>T rs1264025914
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs) rs1567671947

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