ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884

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