ClinVar Miner

List of variants in gene NPC1 studied for not specified

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Gene type:
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Total variants: 69
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HGVS dbSNP
NM_000271.4(NPC1):c.-22A>C rs2303880
NM_000271.4(NPC1):c.-32C>T rs114070977
NM_000271.4(NPC1):c.1071G>A (p.Ser357=) rs61731964
NM_000271.4(NPC1):c.1088C>T (p.Ala363Val) rs774588125
NM_000271.4(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1695C>T (p.Phe565=)
NM_000271.4(NPC1):c.181-4A>C rs374571310
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>A rs71534236
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+10_1947+11insT
NM_000271.4(NPC1):c.1947+13_1947+14insT rs1555634643
NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG rs3837910
NM_000271.4(NPC1):c.1947+14G>T rs3745024
NM_000271.4(NPC1):c.1947+16_1947+17insGGG rs3837910
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.4(NPC1):c.1947+7dupC rs1555634619
NM_000271.4(NPC1):c.1947+8G>C rs66620415
NM_000271.4(NPC1):c.1947+9_1947+10insC
NM_000271.4(NPC1):c.1947+9_1947+10insT
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2131-4delT rs11299077
NM_000271.4(NPC1):c.2131-6_2131-4delTTT rs11299077
NM_000271.4(NPC1):c.2397C>T (p.Cys799=) rs769196521
NM_000271.4(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.4(NPC1):c.2514+6C>T rs73392120
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2731G>A (p.Gly911Ser) rs34302553
NM_000271.4(NPC1):c.2778G>A (p.Ala926=) rs754772486
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2911+28T>C rs6507720
NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.4(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.4(NPC1):c.3246-20G>A rs6507717
NM_000271.4(NPC1):c.3246-46C>T rs117851153
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.4(NPC1):c.3477+15A>G rs369049242
NM_000271.4(NPC1):c.3477+4A>G rs114073738
NM_000271.4(NPC1):c.3535A>G (p.Met1179Val) rs61731969
NM_000271.4(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3592-42G>C rs149111199
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3754+34A>G rs2510344
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.445G>A (p.Gly149Arg) rs143205855
NM_000271.4(NPC1):c.463+19A>G rs117512587
NM_000271.4(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.4(NPC1):c.631+17C>T rs115397659
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
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.881+37C>G rs142700149
NM_000271.4(NPC1):c.956-11C>T rs780491021
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924

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