ClinVar Miner

List of variants in gene GUCA1B reported as likely benign for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_002098.6(GUCA1B):c.*832G>A rs568172984 0.00357
NM_002098.6(GUCA1B):c.-54A>C rs184508322 0.00070
NM_002098.6(GUCA1B):c.*1018C>T rs45569036 0.00030
NM_002098.6(GUCA1B):c.*362G>A rs186489645 0.00014
NM_002098.6(GUCA1B):c.492C>T (p.Asn164=) rs746910924 0.00004
NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu) rs202229506

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