ClinVar Miner

List of variants reported as uncertain significance for ALG12-congenital disorder of glycosylation by Invitae

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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225 0.00061
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp) rs141814567 0.00038
NM_024105.4(ALG12):c.1425G>C (p.Gln475His) rs147000290 0.00036
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser) rs142027212 0.00019
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273 0.00017
NM_024105.4(ALG12):c.1057G>A (p.Val353Met) rs374327138 0.00016
NM_024105.4(ALG12):c.1158G>C (p.Gln386His) rs372390738 0.00010
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val) rs772459313 0.00009
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile) rs777096831 0.00009
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr) rs773892105 0.00007
NM_024105.4(ALG12):c.385A>G (p.Met129Val) rs200068410 0.00007
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237 0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln) rs148062469 0.00006
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln) rs938305311 0.00006
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr) rs770434145 0.00006
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr) rs761571791 0.00006
NM_024105.4(ALG12):c.58G>A (p.Val20Ile) rs140468943 0.00006
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys) rs374858734 0.00005
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp) rs772004305 0.00005
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp) rs567368110 0.00005
NM_024105.4(ALG12):c.469+4C>T rs555319649 0.00005
NM_024105.4(ALG12):c.617T>A (p.Val206Glu) rs150664343 0.00005
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val) rs374812633 0.00004
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln) rs553349150 0.00004
NM_024105.4(ALG12):c.479C>T (p.Ala160Val) rs762826904 0.00004
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642 0.00004
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470 0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589 0.00004
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771 0.00003
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp) rs745477655 0.00003
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln) rs778413165 0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631 0.00003
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp) rs375139092 0.00003
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys) rs754565538 0.00003
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln) rs746493927 0.00003
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg) rs767435558 0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940 0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser) rs199937362 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys) rs148798409 0.00002
NM_024105.4(ALG12):c.1183G>A (p.Val395Met) rs759024738 0.00002
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr) rs755033821 0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008 0.00002
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn) rs201033281 0.00002
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr) rs952664215 0.00002
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu) rs149109851 0.00002
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly) rs747813537 0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724 0.00001
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile) rs761515996 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala) rs996114708 0.00001
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys) rs745510179 0.00001
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp) rs2060527901 0.00001
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835 0.00001
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu) rs778688714 0.00001
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr) rs761301009 0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614 0.00001
NM_024105.4(ALG12):c.377T>G (p.Val126Gly) rs556496917 0.00001
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu) rs1010347575 0.00001
NM_024105.4(ALG12):c.415C>T (p.His139Tyr) rs200490756 0.00001
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser) rs2060570009 0.00001
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg) rs1410146441 0.00001
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr) rs751491422 0.00001
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly) rs1569176254 0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365 0.00001
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu) rs1339045983 0.00001
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291 0.00001
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu) rs778608834 0.00001
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro) rs774052738 0.00001
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys) rs372655623 0.00001
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro) rs1200180536 0.00001
NM_024105.4(ALG12):c.968C>T (p.Thr323Met) rs754936149 0.00001
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr) rs1371150654 0.00001
NC_000022.10:g.(?_50167881)_(51066207_?)dup
NC_000022.10:g.(?_50297486)_(50301612_?)del
NC_000022.11:g.(?_49903818)_(49907964_?)del
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg) rs2147580583
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro) rs2147580574
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val) rs866503885
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val) rs887422058
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
NM_024105.4(ALG12):c.1238+5G>T
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile) rs781494329
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
NM_024105.4(ALG12):c.133C>A (p.Leu45Met) rs779888121
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
NM_024105.4(ALG12):c.1456del (p.Arg486fs) rs768823564
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe) rs2060527495
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu) rs2060591785
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg) rs1208318216
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp) rs148343441
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
NM_024105.4(ALG12):c.295+6G>A rs368352058
NM_024105.4(ALG12):c.295+6G>C
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
NM_024105.4(ALG12):c.468A>G (p.Val156=) rs1221631800
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr) rs1186957751
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr) rs1358548843
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
NM_024105.4(ALG12):c.610G>A (p.Val204Ile) rs779494077
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg) rs2146606588
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile) rs1183282596
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro) rs2146606524
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
NM_024105.4(ALG12):c.768+4_768+5insA rs2146606463
NM_024105.4(ALG12):c.800C>T (p.Ala267Val) rs1287436259
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
NM_024105.4(ALG12):c.841C>A (p.Leu281Met) rs775415771
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp) rs2147585166
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr) rs2060551878
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro) rs1265937339
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys) rs2147584963
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu) rs2147584901
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
NM_024105.4(ALG12):c.96A>G (p.Lys32=) rs2146614770
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)

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