ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease type C by Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000271.4(NPC1):c.1221G>C (p.Gln407His) rs765539977
NM_000271.4(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.4(NPC1):c.1947+10G>T rs71534236
NM_000271.4(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.4(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.4(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.4(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.4(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.4(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.4(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.4(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_006432.4(NPC2):c.271G>A (p.Asp91Asn) rs148607507
NM_006432.4(NPC2):c.292A>C (p.Asn98His) rs142858704

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