ClinVar Miner

List of variants in gene NPC1 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 12
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NM_000271.4(NPC1):c.2213C>A rs777286835
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.350_351AG[1] (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3562del (p.Glu1188fs) rs758231839
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334

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