ClinVar Miner

List of variants in gene GUCA1B studied for perceptual disorders

Included ClinVar conditions (765):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.-17T>C rs1474867 0.86573
NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=) rs3749921 0.53171
NM_002098.6(GUCA1B):c.475+8G>A rs114773899 0.02301
NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp) rs139923590 0.00822
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_002098.6(GUCA1B):c.*473G>A rs183630773 0.00506
NM_002098.6(GUCA1B):c.-73G>A rs7752629 0.00462
NM_002098.6(GUCA1B):c.*780C>T rs144675650 0.00455
NM_002098.6(GUCA1B):c.*997C>T rs114197333 0.00405
NM_002098.6(GUCA1B):c.*961A>C rs566086888 0.00362
NM_002098.6(GUCA1B):c.*832G>A rs568172984 0.00357
NM_002098.6(GUCA1B):c.*428C>T rs555435194 0.00105
NM_002098.6(GUCA1B):c.-60A>G rs145820031 0.00077
NM_002098.6(GUCA1B):c.-54A>C rs184508322 0.00070
NM_002098.6(GUCA1B):c.*868G>A rs548674194 0.00047
NM_002098.6(GUCA1B):c.87G>A (p.Val29=) rs149820788 0.00036
NM_002098.6(GUCA1B):c.*1018C>T rs45569036 0.00030
NM_002098.6(GUCA1B):c.187C>T (p.Arg63Ter) rs200394928 0.00016
NM_002098.6(GUCA1B):c.-35C>T rs561790374 0.00015
NM_002098.6(GUCA1B):c.*362G>A rs186489645 0.00014
NM_002098.6(GUCA1B):c.150C>T (p.Asp50=) rs142428974 0.00013
NM_002098.6(GUCA1B):c.386G>A (p.Arg129Gln) rs150562239 0.00011
NM_002098.6(GUCA1B):c.*502C>T rs886061394 0.00010
NM_002098.6(GUCA1B):c.*688G>A rs1328775376 0.00010
NM_002098.6(GUCA1B):c.570C>T (p.Leu190=) rs200001533 0.00005
NM_002098.6(GUCA1B):c.*451A>G rs886061395 0.00004
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_002098.6(GUCA1B):c.492C>T (p.Asn164=) rs746910924 0.00004
NM_002098.6(GUCA1B):c.65A>G (p.Gln22Arg) rs377415238 0.00004
NM_002098.6(GUCA1B):c.*95T>C rs886061398 0.00003
NM_002098.6(GUCA1B):c.*107C>T rs991862449 0.00002
NM_002098.6(GUCA1B):c.*559T>C rs1387756267 0.00002
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025 0.00002
NM_002098.6(GUCA1B):c.29C>T (p.Ala10Val) rs555181489 0.00002
NM_002098.6(GUCA1B):c.*445G>A rs1291842196 0.00001
NM_002098.6(GUCA1B):c.*461C>T rs1158441932 0.00001
NM_002098.6(GUCA1B):c.*767A>T rs886061393 0.00001
NM_002098.6(GUCA1B):c.111C>A (p.Leu37=) rs117959899 0.00001
NM_002098.6(GUCA1B):c.387G>A (p.Arg129=) rs527241870 0.00001
NM_002098.6(GUCA1B):c.389G>A (p.Arg130Gln) rs564752140 0.00001
NM_002098.6(GUCA1B):c.422C>T (p.Thr141Ile) rs769924304 0.00001
NM_002098.6(GUCA1B):c.516G>A (p.Arg172=) rs752988497 0.00001
NM_002098.6(GUCA1B):c.584G>A (p.Arg195Gln) rs771976584 0.00001
NM_002098.6(GUCA1B):c.*1263G>A rs548960052
NM_002098.6(GUCA1B):c.*179A>T rs886061397
NM_002098.6(GUCA1B):c.*205T>C rs886061396
NM_002098.6(GUCA1B):c.*358A>G rs1768159793
NM_002098.6(GUCA1B):c.*507C>G rs546491968
NM_002098.6(GUCA1B):c.*589T>C rs1768153938
NM_002098.6(GUCA1B):c.*940C>G rs1768147032
NM_002098.6(GUCA1B):c.-114A>G rs72854838
NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu) rs202229506
NM_002098.6(GUCA1B):c.260G>A (p.Arg87Lys)
NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr) rs911189359
NM_002098.6(GUCA1B):c.357+6_357+8delinsCAG
NM_002098.6(GUCA1B):c.539T>C (p.Leu180Pro)
NM_002098.6(GUCA1B):c.561C>T (p.Ser187=)
NM_002098.6(GUCA1B):c.56C>T (p.Ala19Val)
NM_002098.6(GUCA1B):c.68A>G (p.Glu23Gly)
NM_002098.6(GUCA1B):c.81G>A (p.Lys27=)
NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser) rs140794161

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