ClinVar Miner

List of variants in gene NPC1 reported as benign by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000271.5(NPC1):c.-22A>C rs2303880
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2911+28T>C rs6507720
NM_000271.5(NPC1):c.3246-20G>A rs6507717
NM_000271.5(NPC1):c.3754+34A>G rs2510344
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251

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