List of variants in gene NPC1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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_000271.5(NPC1):c.1926G>C (p.Met642Ile)	rs1788799	0.73957
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	rs1805082	0.49943
NM_000271.5(NPC1):c.644A>G (p.His215Arg)	rs1805081	0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	rs12970899	0.13133
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181	0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)	rs750292546
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)	rs1555641909
NM_000271.5(NPC1):c.2131-4del	rs11299077
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)	rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)	rs758902805

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