List of variants in gene NPC1 reported as likely benign by Eurofins NTD LLC (GA)

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	rs55680026	0.00329
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	rs141440861	0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=)	rs144415945	0.00104
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)	rs373435883	0.00015
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)	rs373094778	0.00012
NM_000271.5(NPC1):c.501A>G (p.Ser167=)	rs202148667	0.00011
NM_000271.5(NPC1):c.1947+10_1947+11insT	rs1555634677
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG	rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insT	rs1555634683
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504

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