ClinVar Miner

List of variants in gene NPC1, RMC1 studied for Niemann-Pick disease

Included ClinVar conditions (8):

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.*494G>T	rs201277520	0.00128
NM_000271.5(NPC1):c.*718C>T	rs1227797863	0.00001
NM_000271.5(NPC1):c.*485dup	rs757215027
NM_000271.5(NPC1):c.*500A>G	rs886053662

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