ClinVar Miner

List of variants in gene NPC1 reported as benign by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 12
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HGVS dbSNP
NM_000271.5(NPC1):c.-22A>C rs2303880
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
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.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
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.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081

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