List of variants in gene NPC1L1 studied for NPC1L1-related disorder

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001101648.2(NPC1L1):c.3841G>A (p.Glu1281Lys)	rs217435	0.00299
NM_001101648.2(NPC1L1):c.1078G>A (p.Val360Ile)	rs143494404	0.00238
NM_001101648.2(NPC1L1):c.1935G>A (p.Leu645=)	rs115464778	0.00173
NM_001101648.2(NPC1L1):c.6G>A (p.Ala2=)	rs375614485	0.00110
NM_001101648.2(NPC1L1):c.1249C>T (p.Arg417Trp)	rs139659653	0.00098
NM_001101648.2(NPC1L1):c.1722C>T (p.Phe574=)	rs143082401	0.00055
NM_001101648.2(NPC1L1):c.1374G>A (p.Ser458=)	rs148541253	0.00013
NM_001101648.2(NPC1L1):c.825C>T (p.Thr275=)	rs570409961	0.00009
NM_001101648.2(NPC1L1):c.846G>A (p.Pro282=)	rs372913370	0.00007
NM_001101648.2(NPC1L1):c.1038G>A (p.Thr346=)	rs532138607	0.00005
NM_001101648.2(NPC1L1):c.3797-11TC[2]	rs551386034
NM_001101648.2(NPC1L1):c.928G>T (p.Ala310Ser)	rs79803700

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