ClinVar Miner

List of variants reported as likely benign for ALG12-congenital disorder of glycosylation

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ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_024105.4(ALG12):c.665G>C (p.Gly222Ala) rs149209714 0.00061
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_024105.4(ALG12):c.867C>T (p.His289=) rs147801200 0.00045
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_024105.4(ALG12):c.966C>T (p.Ile322=) rs573103699 0.00021
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720 0.00013
NM_024105.4(ALG12):c.1428A>G (p.Thr476=) rs191342997 0.00012
NM_024105.4(ALG12):c.665-15A>G rs373506247 0.00011
NM_024105.4(ALG12):c.132C>T (p.Asp44=) rs140846449 0.00010
NM_024105.4(ALG12):c.969G>A (p.Thr323=) rs751353681 0.00010
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024105.4(ALG12):c.768+10A>C rs779065174 0.00008
NM_024105.4(ALG12):c.777G>A (p.Pro259=) rs138060012 0.00008
NM_024105.4(ALG12):c.1238+20C>T rs767126536 0.00006
NM_024105.4(ALG12):c.822C>T (p.Cys274=) rs757984807 0.00006
NM_024105.4(ALG12):c.402G>A (p.Thr134=) rs370059291 0.00005
NM_024105.4(ALG12):c.534C>T (p.Phe178=) rs139916198 0.00005
NM_024105.4(ALG12):c.163-5C>T rs368302798 0.00004
NM_024105.4(ALG12):c.165C>T (p.Tyr55=) rs563259198 0.00004
NM_024105.4(ALG12):c.1144C>T (p.Leu382=) rs745820643 0.00003
NM_024105.4(ALG12):c.1163-20G>C rs371655793 0.00003
NM_024105.4(ALG12):c.1164C>T (p.Asp388=) rs557130467 0.00003
NM_024105.4(ALG12):c.1272A>G (p.Thr424=) rs368420135 0.00003
NM_024105.4(ALG12):c.1461G>A (p.Pro487=) rs541941913 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.469+17C>T rs752634210 0.00003
NM_024105.4(ALG12):c.470-15C>T rs367584975 0.00003
NM_024105.4(ALG12):c.837C>T (p.Ile279=) rs200095556 0.00003
NM_024105.4(ALG12):c.912C>T (p.Leu304=) rs1226459157 0.00003
NM_024105.4(ALG12):c.1020G>A (p.Leu340=) rs774752704 0.00002
NM_024105.4(ALG12):c.1119C>T (p.Gly373=) rs765700872 0.00002
NM_024105.4(ALG12):c.1122C>T (p.Val374=) rs373583849 0.00002
NM_024105.4(ALG12):c.1239-16A>G rs915149632 0.00002
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=) rs121907935 0.00002
NM_024105.4(ALG12):c.1413C>T (p.Asn471=) rs767232423 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992 0.00002
NM_024105.4(ALG12):c.435G>A (p.Thr145=) rs781076714 0.00002
NM_024105.4(ALG12):c.470-10T>C rs925389913 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.1182C>T (p.Asp394=) rs766969187 0.00001
NM_024105.4(ALG12):c.1224C>A (p.Val408=) rs146341718 0.00001
NM_024105.4(ALG12):c.1230C>T (p.Ser410=) rs779189579 0.00001
NM_024105.4(ALG12):c.1320C>G (p.Leu440=) rs2060528558 0.00001
NM_024105.4(ALG12):c.1359C>T (p.Ser453=) rs762256657 0.00001
NM_024105.4(ALG12):c.1390C>T (p.Leu464=) rs546031490 0.00001
NM_024105.4(ALG12):c.162+16T>G rs200452706 0.00001
NM_024105.4(ALG12):c.162+19C>T rs777484585 0.00001
NM_024105.4(ALG12):c.163-16G>C rs2060592313 0.00001
NM_024105.4(ALG12):c.258G>A (p.Ser86=) rs141223868 0.00001
NM_024105.4(ALG12):c.296-15A>G rs749576773 0.00001
NM_024105.4(ALG12):c.296-19T>G rs757545642 0.00001
NM_024105.4(ALG12):c.333C>T (p.Leu111=) rs776257312 0.00001
NM_024105.4(ALG12):c.339G>A (p.Thr113=) rs768442865 0.00001
NM_024105.4(ALG12):c.366C>T (p.Phe122=) rs1015611771 0.00001
NM_024105.4(ALG12):c.469+18G>A rs767540166 0.00001
NM_024105.4(ALG12):c.537C>T (p.Ala179=) rs1015991179 0.00001
NM_024105.4(ALG12):c.576C>T (p.Gly192=) rs763437728 0.00001
NM_024105.4(ALG12):c.690T>C (p.Tyr230=) rs750524007 0.00001
NM_024105.4(ALG12):c.873G>A (p.Pro291=) rs200080075 0.00001
NM_024105.4(ALG12):c.909C>T (p.Ser303=) rs768723868 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.951C>T (p.Phe317=) rs1480401201 0.00001
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
NM_024105.4(ALG12):c.1032G>T (p.Gly344=) rs2147580579
NM_024105.4(ALG12):c.1041T>C (p.Leu347=) rs2147580566
NM_024105.4(ALG12):c.1047C>T (p.Ile349=) rs182006999
NM_024105.4(ALG12):c.1050A>G (p.Gly350=)
NM_024105.4(ALG12):c.1056C>T (p.Leu352=)
NM_024105.4(ALG12):c.105G>A (p.Glu35=)
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
NM_024105.4(ALG12):c.1149G>A (p.Val383=) rs778616092
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
NM_024105.4(ALG12):c.1163-13C>T
NM_024105.4(ALG12):c.1163-20G>A
NM_024105.4(ALG12):c.1163-4C>T
NM_024105.4(ALG12):c.1163-9T>C rs2060530812
NM_024105.4(ALG12):c.1171C>T (p.Leu391=)
NM_024105.4(ALG12):c.1176C>T (p.His392=)
NM_024105.4(ALG12):c.1191C>T (p.Ala397=)
NM_024105.4(ALG12):c.1238+12_1238+24del
NM_024105.4(ALG12):c.1238+14A>C
NM_024105.4(ALG12):c.1238+18C>G rs753109798
NM_024105.4(ALG12):c.1238+7T>G rs756526998
NM_024105.4(ALG12):c.1239-17C>A rs2147579777
NM_024105.4(ALG12):c.1239-8T>C
NM_024105.4(ALG12):c.1266G>A (p.Pro422=) rs771112093
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
NM_024105.4(ALG12):c.1308G>T (p.Ala436=)
NM_024105.4(ALG12):c.1317G>A (p.Gly439=)
NM_024105.4(ALG12):c.1326C>G (p.Ala442=)
NM_024105.4(ALG12):c.1338C>T (p.Asp446=)
NM_024105.4(ALG12):c.133C>T (p.Leu45=)
NM_024105.4(ALG12):c.1347G>A (p.Arg449=)
NM_024105.4(ALG12):c.1353G>C (p.Leu451=)
NM_024105.4(ALG12):c.1386G>A (p.Leu462=)
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
NM_024105.4(ALG12):c.162+10C>A
NM_024105.4(ALG12):c.162+11C>T
NM_024105.4(ALG12):c.162+18T>C rs2060593030
NM_024105.4(ALG12):c.163-14C>T
NM_024105.4(ALG12):c.163-19C>T
NM_024105.4(ALG12):c.163-4G>T
NM_024105.4(ALG12):c.163-8C>T
NM_024105.4(ALG12):c.168C>T (p.Asp56=)
NM_024105.4(ALG12):c.180C>T (p.Phe60=) rs202026974
NM_024105.4(ALG12):c.189C>A (p.Val63=)
NM_024105.4(ALG12):c.192C>A (p.Val64=)
NM_024105.4(ALG12):c.201G>A (p.Thr67=)
NM_024105.4(ALG12):c.222C>A (p.Ile74=)
NM_024105.4(ALG12):c.222C>T (p.Ile74=)
NM_024105.4(ALG12):c.231C>T (p.Phe77=)
NM_024105.4(ALG12):c.249C>T (p.Tyr83=)
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
NM_024105.4(ALG12):c.295+19A>G
NM_024105.4(ALG12):c.296-18G>A
NM_024105.4(ALG12):c.306G>C (p.Val102=)
NM_024105.4(ALG12):c.30G>A (p.Arg10=) rs770005800
NM_024105.4(ALG12):c.318C>T (p.Gly106=)
NM_024105.4(ALG12):c.330A>G (p.Gly110=)
NM_024105.4(ALG12):c.333C>G (p.Leu111=)
NM_024105.4(ALG12):c.360G>T (p.Arg120=)
NM_024105.4(ALG12):c.363C>T (p.His121=)
NM_024105.4(ALG12):c.378G>A (p.Val126=)
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
NM_024105.4(ALG12):c.40C>T (p.Leu14=)
NM_024105.4(ALG12):c.411G>A (p.Gln137=)
NM_024105.4(ALG12):c.417C>T (p.His139=)
NM_024105.4(ALG12):c.438G>A (p.Arg146=)
NM_024105.4(ALG12):c.441A>G (p.Thr147=)
NM_024105.4(ALG12):c.450T>C (p.Asn150=)
NM_024105.4(ALG12):c.45G>T (p.Gly15=)
NM_024105.4(ALG12):c.462G>A (p.Leu154=)
NM_024105.4(ALG12):c.462G>C (p.Leu154=)
NM_024105.4(ALG12):c.462G>T (p.Leu154=)
NM_024105.4(ALG12):c.469+15G>T
NM_024105.4(ALG12):c.470-12A>G rs191669043
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.470-14G>A
NM_024105.4(ALG12):c.470-5T>C
NM_024105.4(ALG12):c.470-6T>C
NM_024105.4(ALG12):c.470-8T>C rs1326072016
NM_024105.4(ALG12):c.471C>A (p.Val157=)
NM_024105.4(ALG12):c.474G>C (p.Leu158=)
NM_024105.4(ALG12):c.480C>T (p.Ala160=)
NM_024105.4(ALG12):c.483C>T (p.Leu161=)
NM_024105.4(ALG12):c.486G>C (p.Ala162=)
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.49C>T (p.Leu17=) rs2146614917
NM_024105.4(ALG12):c.543C>T (p.Ile181=)
NM_024105.4(ALG12):c.561G>A (p.Leu187=) rs1601823586
NM_024105.4(ALG12):c.571C>T (p.Leu191=)
NM_024105.4(ALG12):c.580C>T (p.Leu194=) rs2146607719
NM_024105.4(ALG12):c.595T>C (p.Leu199=)
NM_024105.4(ALG12):c.612T>G (p.Val204=)
NM_024105.4(ALG12):c.630T>G (p.Leu210=)
NM_024105.4(ALG12):c.633C>T (p.Arg211=)
NM_024105.4(ALG12):c.636C>T (p.His212=)
NM_024105.4(ALG12):c.642C>G (p.Val214=)
NM_024105.4(ALG12):c.657C>G (p.Leu219=) rs2146607505
NM_024105.4(ALG12):c.664+11C>T
NM_024105.4(ALG12):c.664+14T>C
NM_024105.4(ALG12):c.664+16_664+17del
NM_024105.4(ALG12):c.665-11T>C
NM_024105.4(ALG12):c.665-17_665-16del rs1473790663
NM_024105.4(ALG12):c.665-20A>T
NM_024105.4(ALG12):c.66T>C (p.Thr22=) rs1449442041
NM_024105.4(ALG12):c.729T>C (p.Leu243=)
NM_024105.4(ALG12):c.72C>T (p.His24=)
NM_024105.4(ALG12):c.768+14T>C
NM_024105.4(ALG12):c.768+14T>G
NM_024105.4(ALG12):c.769-10C>G rs910838469
NM_024105.4(ALG12):c.769-11C>G
NM_024105.4(ALG12):c.769-12C>T
NM_024105.4(ALG12):c.769-4G>A
NM_024105.4(ALG12):c.769-5C>T
NM_024105.4(ALG12):c.774C>G (p.Ser258=)
NM_024105.4(ALG12):c.789C>T (p.Tyr263=) rs2147585338
NM_024105.4(ALG12):c.802C>T (p.Leu268=) rs1490287472
NM_024105.4(ALG12):c.804G>A (p.Leu268=)
NM_024105.4(ALG12):c.804G>C (p.Leu268=) rs771276914
NM_024105.4(ALG12):c.810C>T (p.Arg270=)
NM_024105.4(ALG12):c.81C>T (p.Ile27=) rs2146614807
NM_024105.4(ALG12):c.831C>G (p.Leu277=) rs753341759
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
NM_024105.4(ALG12):c.873G>T (p.Pro291=) rs200080075
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
NM_024105.4(ALG12):c.992+10C>T
NM_024105.4(ALG12):c.993-8T>G

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