ClinVar Miner

List of variants in gene combination KIZ, LOC130065507 reported as pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter) rs587777376 0.00001
NM_018474.6(KIZ):c.86_89+19del rs2031451980

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