ClinVar Miner

List of variants in gene NPC1L1 reported as benign for NPC1L1-related disorder

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Total variants: 4
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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.3797-11TC[2] rs551386034
NM_001101648.2(NPC1L1):c.928G>T (p.Ala310Ser) rs79803700

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