ClinVar Miner

List of variants in gene NPC1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 12
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HGVS dbSNP
NC_000018.10:g.23535537dup
NC_000018.10:g.23556257G>A
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081

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