ClinVar Miner

List of variants in gene NMNAT1 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000001.11:g.(?_9981011)_(9982721_?)del
NM_022787.3(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.3(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.3(NMNAT1):c.457C>G (p.Leu153Val) rs387907293
NM_022787.3(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758
NM_022787.3(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.3(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.3(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.3(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291
NM_022787.3(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290

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