ClinVar Miner

List of variants in gene NMNAT1 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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: 2

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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.619C>T (p.Arg207Trp)	rs142968179	0.00004

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