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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	rs1553128102
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175

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