ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_000271.5(NPC1):c.1018_1019AC[1] (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645

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