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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	rs768528387	0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	rs1553128102	0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	rs775978677	0.00001
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	rs747653875

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