ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)	rs1555637139
NM_000271.5(NPC1):c.881+1G>T	rs1555638409
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)	rs2086712337

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