ClinVar Miner

List of variants in gene NPC2, SYNDIG1L studied for Niemann-Pick disease, type C1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.*295C>G	rs113587712	0.00892
NM_006432.5(NPC2):c.*271C>T	rs75936194	0.00521
NM_006432.5(NPC2):c.*237G>A	rs185533644	0.00023

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