ClinVar Miner

List of variants in gene NHLRC1 studied for Lafora disease

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 313
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_198586.3(NHLRC1):c.*621T>A rs10949481 0.08640
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06918
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_198586.3(NHLRC1):c.*237T>C rs73379118 0.01527
NM_198586.3(NHLRC1):c.*85T>A rs73379121 0.01526
NM_198586.3(NHLRC1):c.*276G>C rs11966748 0.01453
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00663
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_198586.3(NHLRC1):c.*332G>T rs140122442 0.00201
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_198586.3(NHLRC1):c.*326C>T rs369668171 0.00144
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405 0.00133
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00093
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_198586.3(NHLRC1):c.*442G>C rs555214908 0.00069
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172 0.00067
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242 0.00038
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191 0.00030
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) rs539307365 0.00021
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_198586.3(NHLRC1):c.*38G>T rs377500729 0.00020
NM_198586.3(NHLRC1):c.*837G>A rs536257194 0.00014
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn) rs770587249 0.00013
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310 0.00011
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.933G>T (p.Gly311=) rs527299943 0.00008
NM_198586.3(NHLRC1):c.*797A>G rs886061250 0.00007
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val) rs367906378 0.00006
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) rs140164729 0.00006
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=) rs760322295 0.00005
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237 0.00005
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val) rs772155104 0.00005
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=) rs748203595 0.00005
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu) rs144863228 0.00004
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232 0.00004
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu) rs376655413 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=) rs747655441 0.00003
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val) rs765443391 0.00003
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val) rs1275828844 0.00003
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln) rs759908693 0.00003
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr) rs570505924 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=) rs375475285 0.00003
NM_198586.3(NHLRC1):c.*210T>C rs1370146880 0.00002
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val) rs750935925 0.00002
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674 0.00002
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=) rs143893542 0.00002
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752 0.00002
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile) rs765576968 0.00002
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe) rs553900705 0.00002
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp) rs755232826 0.00002
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val) rs774955028 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr) rs201476733 0.00002
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=) rs202217857 0.00002
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu) rs753591736 0.00002
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703 0.00002
NM_198586.3(NHLRC1):c.*537T>C rs935643502 0.00001
NM_198586.3(NHLRC1):c.*61C>A rs886061252 0.00001
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858 0.00001
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116 0.00001
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu) rs1440601226 0.00001
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=) rs752799460 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val) rs778364234 0.00001
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=) rs1179677260 0.00001
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe) rs541460675 0.00001
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp) rs562100142 0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=) rs778080945 0.00001
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln) rs1280991443 0.00001
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg) rs1174745955 0.00001
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=) rs763202331 0.00001
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg) rs371218834 0.00001
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=) rs1057521817 0.00001
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096 0.00001
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser) rs909097062 0.00001
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser) rs1467326281 0.00001
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) rs1085307861 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn) rs1294825458 0.00001
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=) rs1280323559 0.00001
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg) rs1783749311 0.00001
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405 0.00001
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile) rs1233490914 0.00001
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser) rs368134036 0.00001
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=) rs529490452 0.00001
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=) rs1403101337 0.00001
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln) rs771805307 0.00001
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=) rs1258101648 0.00001
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) rs367649330 0.00001
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala) rs746239356 0.00001
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu) rs963295265 0.00001
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu) rs201058506 0.00001
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp) rs1449381352 0.00001
NM_198586.3(NHLRC1):c.663G>A (p.Val221=) rs374108909 0.00001
NM_198586.3(NHLRC1):c.690G>A (p.Val230=) rs1245001963 0.00001
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys) rs747276703 0.00001
NM_198586.3(NHLRC1):c.720C>T (p.His240=) rs1161999387 0.00001
NM_198586.3(NHLRC1):c.729C>T (p.Asp243=) rs146420615 0.00001
NM_198586.3(NHLRC1):c.741G>A (p.Ala247=) rs571973789 0.00001
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg) rs377025668 0.00001
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro) rs879745047 0.00001
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His) rs749287999 0.00001
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg) rs796052756 0.00001
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala) rs755474952 0.00001
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=) rs1220104886 0.00001
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val) rs1281512045 0.00001
NM_198586.3(NHLRC1):c.843C>T (p.His281=) rs762001530 0.00001
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581 0.00001
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser) rs752220824 0.00001
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr) rs776454075 0.00001
NM_198586.3(NHLRC1):c.*153A>T rs895212001
NM_198586.3(NHLRC1):c.*175T>C rs1783727115
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*327G>C rs375143655
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr) rs781739043
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=) rs2150702721
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg) rs1783733675
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser) rs1783733228
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=) rs752799460
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln) rs764691077
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) rs764691077
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=) rs903344687
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn) rs1422730903
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys) rs771702699
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs) rs1783731105
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg) rs753959228
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=) rs760726977
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
NM_198586.3(NHLRC1):c.123G>A (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)
NM_198586.3(NHLRC1):c.129C>T (p.Asn43=) rs1438368642
NM_198586.3(NHLRC1):c.135C>G (p.Ser45=) rs2150703342
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.138C>T (p.Cys46=) rs1489142985
NM_198586.3(NHLRC1):c.147G>A (p.Val49=)
NM_198586.3(NHLRC1):c.150C>T (p.Val50=)
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=) rs2150703320
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln) rs1783757283
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu) rs1783757283
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His) rs796052754
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.195C>T (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys) rs779507031
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser) rs1783756475
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys) rs1582030466
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu) rs1280991443
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=) rs755232826
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn) rs2150703425
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=) rs1174745955
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr) rs1582030401
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=) rs1203128687
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu) rs1340355518
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser) rs1484414595
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr) rs568131096
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu) rs1166657109
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly) rs1255416149
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=) rs2150703205
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro) rs796052755
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=) rs772440533
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg) rs1783752059
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly) rs2150703412
NM_198586.3(NHLRC1):c.354C>T (p.His118=) rs2150703182
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile) rs1783751214
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=) rs754279385
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) rs967125703
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val) rs1783749949
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met) rs1367848969
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=) rs1382326927
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln) rs2150703410
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu) rs1783749565
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
NM_198586.3(NHLRC1):c.423_425del (p.Val144del) rs1783748374
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro) rs1783748075
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) rs200559475
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His) rs749599233
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn) rs2150703098
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=) rs770992577
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu) rs781300542
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=) rs1783746446
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro) rs1217974765
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys) rs796052757
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg) rs1783745635
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=) rs1414840416
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys) rs771805307
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=) rs747084695
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
NM_198586.3(NHLRC1):c.630C>A (p.Val210=) rs2150702986
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser) rs1783743169
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His) rs754756237
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val) rs1449381352
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu) rs1783742476
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn) rs371640803
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=) rs1170288661
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly) rs1173727000
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=) rs1783741826
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr) rs747276703
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu) rs146420615
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn) rs2150702925
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=) rs1561881781
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=) rs1582029822
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp) rs1244886517
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=) rs2150702898
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser) rs1783740022
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr) rs2150702863
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)
NM_198586.3(NHLRC1):c.831G>C (p.Ala277=) rs556216487
NM_198586.3(NHLRC1):c.831G>T (p.Ala277=) rs556216487
NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg) rs2150702844
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu) rs2150702844
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile) rs1783736655
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro) rs2150702790
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys) rs757759398
NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)

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