ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance for Niemann-Pick disease, type C

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Total variants: 8
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NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810

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