ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007

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