ClinVar Miner

List of variants in gene NPC1 reported by Fulgent Genetics,Fulgent Genetics

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Total variants: 22
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HGVS dbSNP
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007

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