ClinVar Miner

List of variants in gene NPC1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.2911+28T>C rs6507720 0.56005
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.3754+34A>G rs2510344 0.48972
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000271.5(NPC1):c.-22A>C rs2303880 0.08768
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.3592-42G>C rs149111199 0.00228
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000271.5(NPC1):c.-36A>C rs750622739 0.00031
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734 0.00018
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu) rs140149624 0.00014
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.3477+15A>G rs369049242 0.00009
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His) rs563385810 0.00009
NM_000271.5(NPC1):c.2911+10C>T rs370382673 0.00008
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643 0.00007
NM_000271.5(NPC1):c.912C>T (p.Pro304=) rs140894981 0.00007
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000271.5(NPC1):c.1608G>A (p.Thr536=) rs372770463 0.00004
NM_000271.5(NPC1):c.1947+12G>T rs886053666 0.00004
NM_000271.5(NPC1):c.3132G>A (p.Val1044=) rs138054593 0.00004
NM_000271.5(NPC1):c.1140C>G (p.Leu380=) rs746501807 0.00003
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.1938C>T (p.Arg646=) rs767794928 0.00003
NM_000271.5(NPC1):c.2001G>A (p.Ser667=) rs762100560 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 0.00003
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521 0.00003
NM_000271.5(NPC1):c.963G>A (p.Ala321=) rs763990769 0.00003
NM_000271.5(NPC1):c.1948-5C>T rs778035488 0.00002
NM_000271.5(NPC1):c.3048T>C (p.His1016=) rs369362891 0.00002
NM_000271.5(NPC1):c.3288C>T (p.Asp1096=) rs371093388 0.00002
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2178G>A (p.Arg726=) rs770324592 0.00001
NM_000271.5(NPC1):c.271C>T (p.Leu91=) rs773809600 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3099C>T (p.Val1033=) rs753304482 0.00001
NM_000271.5(NPC1):c.3478-7A>C rs767148121 0.00001
NM_000271.5(NPC1):c.3639G>A (p.Leu1213=) rs120074131 0.00001
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728 0.00001
NM_000271.5(NPC1):c.515C>T (p.Ala172Val) rs753654470 0.00001
NM_000271.5(NPC1):c.57+7G>A rs886042901 0.00001
NM_000271.5(NPC1):c.881+6C>T rs1180731498 0.00001
NM_000271.5(NPC1):c.956-11C>T rs780491021 0.00001
NC_000018.9:g.21124907_21124908insCCGC rs55809701
NM_000271.4(NPC1):c.1947+16_1947+17insCGG rs55809701
NM_000271.5(NPC1):c.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.1395A>G (p.Gln465=)
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile) rs201791992
NM_000271.5(NPC1):c.1554-1007G>A
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1621G>A (p.Val541Met) rs2058874338
NM_000271.5(NPC1):c.1842T>C (p.Asn614=) rs1373458567
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+11_1947+12insC rs2058765443
NM_000271.5(NPC1):c.1947+11_1947+12insGC
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+12_1947+13insGGA rs1555634658
NM_000271.5(NPC1):c.1947+12_1947+13insGGGC rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGT rs1555634658
NM_000271.5(NPC1):c.1947+13G>C rs568769965
NM_000271.5(NPC1):c.1947+13_1947+14insA rs1555634643
NM_000271.5(NPC1):c.1947+13_1947+14insC rs1555634643
NM_000271.5(NPC1):c.1947+13_1947+14insGGC rs771098370
NM_000271.5(NPC1):c.1947+13_1947+14insGGGA rs1555634644
NM_000271.5(NPC1):c.1947+13_1947+14insGGT rs771098370
NM_000271.5(NPC1):c.1947+13_1947+14insGT
NM_000271.5(NPC1):c.1947+14_1947+15insGGGA
NM_000271.5(NPC1):c.1947+14_1947+15insGGGC rs1555634634
NM_000271.5(NPC1):c.1947+14_1947+15insT
NM_000271.5(NPC1):c.1947+15_1947+19dup rs1555634596
NM_000271.5(NPC1):c.1947+16_1947+19dup rs1555634597
NM_000271.5(NPC1):c.1947+19_1947+20insGGG
NM_000271.5(NPC1):c.1947+7C>G rs56394541
NM_000271.5(NPC1):c.1947+7_1947+8insCG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+8G>A rs66620415
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)
NM_000271.5(NPC1):c.2131-5T>A
NM_000271.5(NPC1):c.2131-6_2131-4del rs11299077
NM_000271.5(NPC1):c.2428G>A (p.Val810Ile) rs145362908
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2550C>G (p.Ile850Met)
NM_000271.5(NPC1):c.2667G>A (p.Val889=)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.3049G>A (p.Ala1017Thr)
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3591+126C>G
NM_000271.5(NPC1):c.3592-10C>G
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr) rs1266315135
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3755-3T>C rs748965235
NM_000271.5(NPC1):c.464-4C>T
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.895G>C (p.Val299Leu) rs1032415844
NM_000271.5(NPC1):c.956-10G>T

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