ClinVar Miner

List of variants reported as likely benign for cataract 22 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly) rs147831812 0.00394
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu) rs145770544 0.00202
NM_004076.5(CRYBB3):c.75+18G>A rs141199896 0.00063
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_004076.5(CRYBB3):c.*129G>A rs561311265 0.00010
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004076.5(CRYBB3):c.327+13C>T rs1013210463 0.00002
NM_004076.5(CRYBB3):c.51T>C (p.His17=) rs1449380333 0.00001
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)

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