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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181
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.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.3259T>C (p.Phe1087Leu)	rs746715353
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	rs778878523
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	rs28942105
NM_000271.5(NPC1):c.3477+2T>C
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)	rs748862167

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