ClinVar Miner

List of variants in gene NPC1 reported as likely benign for not provided

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Total variants: 13
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HGVS dbSNP
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.1554-1010C>T rs142706876
NM_000271.5(NPC1):c.1554-1016C>T rs145998218
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2130+26T>A rs201543574
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.956-7C>T rs537484682

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