ClinVar Miner

List of variants in gene NPC1 reported as pathogenic by Mendelics

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Total variants: 7
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HGVS dbSNP
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.449_450AG[1] (p.Ser151fs) rs749012588

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