ClinVar Miner

List of variants in gene CRYBA1 reported as likely pathogenic for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005208.5(CRYBA1):c.500+1G>A rs775038545 0.00003
NM_005208.5(CRYBA1):c.258del (p.Phe86fs) rs745555171
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005208.5(CRYBA1):c.501-2_522del
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del) rs1555547008
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp) rs2153009764

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