ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease type C by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.5(NPC1):c.*164T>C rs8086463
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+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_006432.4(NPC2):c.*271C>T rs75936194
NM_006432.4(NPC2):c.442-4A>C rs114950106

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