ClinVar Miner

List of variants in gene NPC1 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.5(NPC1):c.*68G>A
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3477+4A>G rs114073738
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667

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