ClinVar Miner

List of variants in gene NPC1 reported by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_000271.4(NPC1):c.-22A>C rs2303880
NM_000271.4(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1554-1010C>T rs142706876
NM_000271.4(NPC1):c.1554-1016C>T rs145998218
NM_000271.4(NPC1):c.1554-1021A>T rs73392141
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2130+26T>A rs201543574
NM_000271.4(NPC1):c.2131-4delT rs11299077
NM_000271.4(NPC1):c.2131-4dup rs11299077
NM_000271.4(NPC1):c.2131-5_2131-4delTT rs11299077
NM_000271.4(NPC1):c.2131-6_2131-4delTTT rs11299077
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2604+30delT rs746440359
NM_000271.4(NPC1):c.2604+30dup rs746440359
NM_000271.4(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2911+28T>C rs6507720
NM_000271.4(NPC1):c.3246-20G>A rs6507717
NM_000271.4(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.4(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.4(NPC1):c.956-7C>T rs537484682

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