List of variants in gene NPC2 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)	rs80358264	0.00001
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)	rs80358262
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	rs80358266
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	rs104894457
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	rs80358260

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