ClinVar Miner

List of variants in gene combination GIGYF2, KCNJ13 reported as likely benign for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002242.4(KCNJ13):c.*135A>G rs8192539
NM_002242.4(KCNJ13):c.*1839A>G rs34063802
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) rs1801251

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