ClinVar Miner

List of variants studied for Leber congenital amaurosis 9 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416

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