List of variants in gene NPC2 reported by Counsyl

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)	rs757377148	0.00005
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe)	rs1555345993
NM_006432.5(NPC2):c.191-1_193del	rs1555345873
NM_006432.5(NPC2):c.1A>G (p.Met1Val)	rs1555346369
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)	rs1555346368
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	rs80358266
NM_006432.5(NPC2):c.364-2A>G	rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)	rs483352893
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)	rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	rs104894457
NM_006432.5(NPC2):c.442-1G>A	rs1555345562
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	rs80358260

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