List of variants in gene NPC1 reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000271.5(NPC1):c.1947+14_1947+15insC	rs201170241	0.00371
NM_000271.5(NPC1):c.2795+19T>C	rs200103695	0.00342
NM_000271.5(NPC1):c.463+19A>G	rs117512587	0.00252
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	rs151125564	0.00150
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_000271.5(NPC1):c.66A>G (p.Ser22=)	rs144415945	0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	rs145145840	0.00103
NM_000271.5(NPC1):c.2604+14_2604+16del	rs747422358	0.00074
NM_000271.5(NPC1):c.3477+19T>C	rs375942184	0.00019
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup	rs3837910

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