List of variants in gene combination NANS, TRIM14 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018946.4(NANS):c.772G>T (p.Glu258Ter)	rs200709126	0.00001
NM_018946.4(NANS):c.256C>T (p.Arg86Ter)
NM_018946.4(NANS):c.655dup (p.Thr219fs)
NM_018946.4(NANS):c.92del (p.Gly31fs)	rs1459077847

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