ClinVar Miner

List of variants in gene GUCA1B reported as uncertain significance for Retinitis pigmentosa

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.*428C>T rs555435194 0.00105
NM_002098.6(GUCA1B):c.*868G>A rs548674194 0.00047
NM_002098.6(GUCA1B):c.-35C>T rs561790374 0.00015
NM_002098.6(GUCA1B):c.150C>T (p.Asp50=) rs142428974 0.00013
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.*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.*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.516G>A (p.Arg172=) rs752988497 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.260G>C (p.Arg87Thr) rs911189359
NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser) rs140794161

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