ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 10
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NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009

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