ClinVar Miner

List of variants reported as benign for Niemann-Pick disease type C by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_006432.4(NPC2):c.442-4A>C rs114950106

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