ClinVar Miner

List of variants in gene NPC1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000271.5(NPC1):c.-32C>T rs114070977
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.463+19A>G rs117512587
NM_000271.5(NPC1):c.631+17C>T rs115397659

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