ClinVar Miner

List of variants studied for cataract 22 multiple types

Included ClinVar conditions (1):
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_004076.5(CRYBB3):c.-20-13T>C rs2269672 0.60613
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
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.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956 0.00119
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.536G>A (p.Arg179His) rs149232677 0.00034
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His) rs151051126 0.00034
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_004076.5(CRYBB3):c.-61C>T rs113563958 0.00014
NM_004076.5(CRYBB3):c.263G>A (p.Arg88His) rs138167578 0.00014
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021 0.00013
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617 0.00011
NM_004076.5(CRYBB3):c.*129G>A rs561311265 0.00010
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=) rs147906885 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys) rs755475309 0.00004
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291 0.00003
NM_004076.5(CRYBB3):c.327+13C>T rs1013210463 0.00002
NM_004076.5(CRYBB3):c.*143C>T rs886057294 0.00001
NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe) rs1232309133 0.00001
NM_004076.5(CRYBB3):c.328-8G>A rs756648232 0.00001
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752 0.00001
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys) rs375275387 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300 0.00001
NM_004076.5(CRYBB3):c.51T>C (p.His17=) rs1449380333 0.00001
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln) rs200791666 0.00001
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp) rs752618205 0.00001
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=) rs373954142 0.00001
NC_000022.10:g.(?_25601167)_(25601349_?)dup
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.-57C>G rs777375397
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser) rs780319207
NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met) rs1363417170
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu) rs1935047601
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) rs587777601
NM_004076.5(CRYBB3):c.75+7G>C
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)

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