ClinVar Miner

List of variants studied for cataract 22 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.*129G>A
NM_004076.5(CRYBB3):c.*143C>T rs886057294
NM_004076.5(CRYBB3):c.-57C>G
NM_004076.5(CRYBB3):c.-61C>T
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser)
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=)
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506
NM_004076.5(CRYBB3):c.327+1G>T rs143187630
NM_004076.5(CRYBB3):c.328-8G>A
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys)
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys)
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln)
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) rs587777601
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp)
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His)
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=)
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956

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