ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic by Invitae

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Total variants: 24
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HGVS dbSNP
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.180+1G>C
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2911+2del
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.3041+2del
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.3597del (p.Phe1199fs)
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942

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