ClinVar Miner

List of variants in gene GUCA1A, GUCA1B studied for Retinitis pigmentosa

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.*1318G>A rs1997980 0.19007
NM_002098.6(GUCA1B):c.*457A>G rs9471797 0.08051
NM_002098.6(GUCA1B):c.*220A>G rs3749920 0.07099
NM_002098.6(GUCA1B):c.*503G>A rs13211352 0.05681
NM_002098.6(GUCA1B):c.*480G>A rs113734032 0.02572
NM_002098.6(GUCA1B):c.*429G>A rs114573886 0.02128
NM_002098.6(GUCA1B):c.*488C>T rs7764586 0.02085
NM_002098.6(GUCA1B):c.*433A>G rs140024841 0.01581
NM_002098.6(GUCA1B):c.*1126A>G rs115180990 0.01569
NM_002098.6(GUCA1B):c.*1203T>C rs75437254 0.01565
NM_002098.6(GUCA1B):c.*295G>A rs73733110 0.01494
NM_002098.6(GUCA1B):c.*477C>T rs143063040 0.01456
NM_002098.6(GUCA1B):c.*1088G>C rs76451756 0.01451
NM_002098.6(GUCA1B):c.*928A>G rs114824449 0.01449
NM_002098.6(GUCA1B):c.*666G>T rs140229339 0.01415
NM_002098.6(GUCA1B):c.*618G>A rs150308756 0.01063
NM_002098.6(GUCA1B):c.*581G>A rs138314395 0.00614

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