ClinVar Miner

List of variants in gene NPC1L1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001101648.2(NPC1L1):c.934G>C (p.Asp312His) rs145167295 0.00097
NM_001101648.2(NPC1L1):c.3137-1304G>A rs879253392 0.00028
NM_001101648.2(NPC1L1):c.3730C>G (p.Leu1244Val) rs760656359 0.00023
NM_001101648.2(NPC1L1):c.1813C>T (p.Arg605Cys) rs202127286 0.00019
NM_001101648.2(NPC1L1):c.1846A>G (p.Met616Val) rs145554241 0.00019
NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu) rs147377945 0.00018
NM_001101648.2(NPC1L1):c.3989G>A (p.Arg1330Gln) rs751572189 0.00013
NM_001101648.2(NPC1L1):c.725G>A (p.Arg242His) rs151154365 0.00013
NM_001101648.2(NPC1L1):c.1817G>A (p.Arg606Gln) rs200753260 0.00011
NM_001101648.2(NPC1L1):c.2459C>T (p.Pro820Leu) rs151211428 0.00011
NM_001101648.2(NPC1L1):c.979G>A (p.Asp327Asn) rs199802741 0.00010
NM_001101648.2(NPC1L1):c.229A>G (p.Ile77Val) rs143258432 0.00009
NM_001101648.2(NPC1L1):c.3137-1291C>T rs1480810950 0.00008
NM_001101648.2(NPC1L1):c.458T>C (p.Val153Ala) rs762931835 0.00007
NM_001101648.2(NPC1L1):c.2146A>G (p.Ile716Val) rs757828392 0.00006
NM_001101648.2(NPC1L1):c.2470G>A (p.Gly824Arg) rs564692338 0.00006
NM_001101648.2(NPC1L1):c.1103C>T (p.Ala368Val) rs200072878 0.00005
NM_001101648.2(NPC1L1):c.2078G>A (p.Arg693His) rs770897966 0.00005
NM_001101648.2(NPC1L1):c.3518C>T (p.Ser1173Leu) rs528352114 0.00005
NM_001101648.2(NPC1L1):c.2416C>T (p.Arg806Trp) rs748272080 0.00004
NM_001101648.2(NPC1L1):c.1085C>T (p.Pro362Leu) rs200584876 0.00003
NM_001101648.2(NPC1L1):c.1417G>A (p.Ala473Thr) rs201421514 0.00003
NM_001101648.2(NPC1L1):c.1997C>T (p.Ala666Val) rs373560573 0.00003
NM_001101648.2(NPC1L1):c.2485C>T (p.Leu829Phe) rs149085235 0.00003
NM_001101648.2(NPC1L1):c.2777A>G (p.Asn926Ser) rs150891392 0.00003
NM_001101648.2(NPC1L1):c.2894C>T (p.Ser965Phe) rs767278488 0.00003
NM_001101648.2(NPC1L1):c.335G>A (p.Arg112His) rs759592756 0.00003
NM_001101648.2(NPC1L1):c.3988C>T (p.Arg1330Trp) rs755084966 0.00003
NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys) rs778443348 0.00003
NM_001101648.2(NPC1L1):c.776G>A (p.Cys259Tyr) rs1477868851 0.00003
NM_001101648.2(NPC1L1):c.1415A>G (p.Tyr472Cys) rs1043056592 0.00002
NM_001101648.2(NPC1L1):c.1676A>G (p.Tyr559Cys) rs1001839909 0.00002
NM_001101648.2(NPC1L1):c.2207T>C (p.Ile736Thr) rs754960204 0.00002
NM_001101648.2(NPC1L1):c.2627C>A (p.Ala876Asp) rs765685520 0.00002
NM_001101648.2(NPC1L1):c.2951T>A (p.Val984Asp) rs1350093442 0.00002
NM_001101648.2(NPC1L1):c.3101C>T (p.Thr1034Ile) rs763260628 0.00002
NM_001101648.2(NPC1L1):c.571G>A (p.Val191Met) rs146842539 0.00002
NM_001101648.2(NPC1L1):c.1037C>T (p.Thr346Met) rs1340608510 0.00001
NM_001101648.2(NPC1L1):c.1079T>C (p.Val360Ala) rs760837609 0.00001
NM_001101648.2(NPC1L1):c.1111G>T (p.Val371Phe) rs148859805 0.00001
NM_001101648.2(NPC1L1):c.1213T>C (p.Phe405Leu) rs746472384 0.00001
NM_001101648.2(NPC1L1):c.1408A>G (p.Ile470Val) rs377561588 0.00001
NM_001101648.2(NPC1L1):c.1688A>G (p.Asp563Gly) rs200336622 0.00001
NM_001101648.2(NPC1L1):c.1789T>G (p.Leu597Val) rs536539929 0.00001
NM_001101648.2(NPC1L1):c.1996G>A (p.Ala666Thr) rs2484336930 0.00001
NM_001101648.2(NPC1L1):c.2447A>G (p.Gln816Arg) rs751528275 0.00001
NM_001101648.2(NPC1L1):c.3137-1261C>T rs7799594 0.00001
NM_001101648.2(NPC1L1):c.3203C>G (p.Ala1068Gly) rs767626455 0.00001
NM_001101648.2(NPC1L1):c.3805G>A (p.Val1269Ile) rs201187589 0.00001
NM_001101648.2(NPC1L1):c.38C>A (p.Ala13Asp) rs1025904545 0.00001
NM_001101648.2(NPC1L1):c.527G>A (p.Arg176His) rs758548716 0.00001
NM_001101648.2(NPC1L1):c.796A>G (p.Ile266Val) rs147224015 0.00001
NM_001101648.2(NPC1L1):c.1126A>T (p.Thr376Ser) rs549357298
NM_001101648.2(NPC1L1):c.1130C>T (p.Thr377Met)
NM_001101648.2(NPC1L1):c.1190A>G (p.His397Arg)
NM_001101648.2(NPC1L1):c.1223A>C (p.Asn408Thr)
NM_001101648.2(NPC1L1):c.1241C>A (p.Ala414Asp)
NM_001101648.2(NPC1L1):c.1250G>A (p.Arg417Gln) rs536660131
NM_001101648.2(NPC1L1):c.1256G>T (p.Ser419Ile) rs1181629807
NM_001101648.2(NPC1L1):c.1261A>G (p.Arg421Gly)
NM_001101648.2(NPC1L1):c.1385A>G (p.Gln462Arg)
NM_001101648.2(NPC1L1):c.1387C>A (p.Arg463Ser)
NM_001101648.2(NPC1L1):c.13G>A (p.Gly5Ser) rs759412002
NM_001101648.2(NPC1L1):c.1519C>A (p.Gln507Lys)
NM_001101648.2(NPC1L1):c.1528A>G (p.Met510Val)
NM_001101648.2(NPC1L1):c.1529T>C (p.Met510Thr)
NM_001101648.2(NPC1L1):c.1565T>G (p.Phe522Cys) rs1376703649
NM_001101648.2(NPC1L1):c.1583C>T (p.Ala528Val)
NM_001101648.2(NPC1L1):c.1610C>A (p.Ala537Asp)
NM_001101648.2(NPC1L1):c.1613T>C (p.Leu538Pro) rs2484348133
NM_001101648.2(NPC1L1):c.1637A>T (p.Tyr546Phe)
NM_001101648.2(NPC1L1):c.1645C>A (p.Pro549Thr) rs1305808444
NM_001101648.2(NPC1L1):c.1753C>T (p.Arg585Cys) rs377514672
NM_001101648.2(NPC1L1):c.1802G>T (p.Arg601Leu)
NM_001101648.2(NPC1L1):c.1855C>T (p.Arg619Cys)
NM_001101648.2(NPC1L1):c.1856G>T (p.Arg619Leu) rs1183815017
NM_001101648.2(NPC1L1):c.1859C>T (p.Ser620Phe) rs373091710
NM_001101648.2(NPC1L1):c.1879C>T (p.Arg627Cys)
NM_001101648.2(NPC1L1):c.1922T>C (p.Ile641Thr) rs750385390
NM_001101648.2(NPC1L1):c.1930T>G (p.Phe644Val)
NM_001101648.2(NPC1L1):c.194A>G (p.Lys65Arg) rs2484365261
NM_001101648.2(NPC1L1):c.199A>T (p.Thr67Ser)
NM_001101648.2(NPC1L1):c.2000C>T (p.Thr667Met)
NM_001101648.2(NPC1L1):c.200C>G (p.Thr67Arg)
NM_001101648.2(NPC1L1):c.200C>T (p.Thr67Ile)
NM_001101648.2(NPC1L1):c.2011G>A (p.Gly671Ser)
NM_001101648.2(NPC1L1):c.2021C>T (p.Ala674Val) rs2484336664
NM_001101648.2(NPC1L1):c.2057T>G (p.Phe686Cys) rs2484336379
NM_001101648.2(NPC1L1):c.2101G>A (p.Val701Met)
NM_001101648.2(NPC1L1):c.2116G>A (p.Val706Met)
NM_001101648.2(NPC1L1):c.2125G>A (p.Val709Met)
NM_001101648.2(NPC1L1):c.2212C>G (p.Arg738Gly) rs1340269959
NM_001101648.2(NPC1L1):c.2279T>C (p.Leu760Pro)
NM_001101648.2(NPC1L1):c.2302G>A (p.Ala768Thr)
NM_001101648.2(NPC1L1):c.2465G>A (p.Gly822Asp)
NM_001101648.2(NPC1L1):c.2685G>C (p.Glu895Asp) rs2484295846
NM_001101648.2(NPC1L1):c.2693C>T (p.Ala898Val)
NM_001101648.2(NPC1L1):c.2873T>C (p.Ile958Thr)
NM_001101648.2(NPC1L1):c.2909A>T (p.Tyr970Phe) rs747414035
NM_001101648.2(NPC1L1):c.2950G>A (p.Val984Ile)
NM_001101648.2(NPC1L1):c.2990C>T (p.Thr997Met)
NM_001101648.2(NPC1L1):c.311C>G (p.Ser104Trp)
NM_001101648.2(NPC1L1):c.311C>T (p.Ser104Leu) rs374252961
NM_001101648.2(NPC1L1):c.3137-1268A>G rs1316277525
NM_001101648.2(NPC1L1):c.3224A>G (p.Asn1075Ser)
NM_001101648.2(NPC1L1):c.3259G>T (p.Asp1087Tyr) rs79519744
NM_001101648.2(NPC1L1):c.3261C>A (p.Asp1087Glu) rs778181734
NM_001101648.2(NPC1L1):c.3346C>A (p.Leu1116Ile) rs552498840
NM_001101648.2(NPC1L1):c.338G>A (p.Cys113Tyr)
NM_001101648.2(NPC1L1):c.3454A>G (p.Thr1152Ala) rs895973476
NM_001101648.2(NPC1L1):c.3573C>G (p.Ile1191Met)
NM_001101648.2(NPC1L1):c.3632C>A (p.Ala1211Glu)
NM_001101648.2(NPC1L1):c.3671T>A (p.Ile1224Asn)
NM_001101648.2(NPC1L1):c.3688G>A (p.Ala1230Thr)
NM_001101648.2(NPC1L1):c.3688G>T (p.Ala1230Ser) rs148506506
NM_001101648.2(NPC1L1):c.3740C>G (p.Thr1247Ser)
NM_001101648.2(NPC1L1):c.3793G>A (p.Val1265Met)
NM_001101648.2(NPC1L1):c.3863T>C (p.Met1288Thr)
NM_001101648.2(NPC1L1):c.3933T>G (p.Phe1311Leu) rs775025237
NM_001101648.2(NPC1L1):c.3983A>G (p.Asn1328Ser)
NM_001101648.2(NPC1L1):c.422G>A (p.Arg141His)
NM_001101648.2(NPC1L1):c.446A>G (p.Gln149Arg)
NM_001101648.2(NPC1L1):c.49C>T (p.Arg17Cys)
NM_001101648.2(NPC1L1):c.682G>C (p.Ala228Pro)
NM_001101648.2(NPC1L1):c.750C>G (p.Asp250Glu)
NM_001101648.2(NPC1L1):c.803G>A (p.Arg268His)
NM_001101648.2(NPC1L1):c.811G>A (p.Ala271Thr) rs139533378
NM_001101648.2(NPC1L1):c.850A>T (p.Ser284Cys)
NM_001101648.2(NPC1L1):c.89C>T (p.Pro30Leu)
NM_001101648.2(NPC1L1):c.948G>A (p.Met316Ile)
NM_001101648.2(NPC1L1):c.949G>A (p.Val317Met)
NM_001101648.2(NPC1L1):c.982A>G (p.Lys328Glu) rs2484358861

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