ClinVar Miner

List of variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 423
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00275
NM_000191.3(HMGCL):c.497+19G>A rs187735179 0.00172
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00070
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026 0.00064
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 0.00027
NM_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000191.3(HMGCL):c.876+18C>T rs200098567 0.00015
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00013
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly) rs143981931 0.00010
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00010
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 0.00008
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile) rs142942001 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.882G>A (p.Val294=) rs1370242689 0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765 0.00005
NM_000191.3(HMGCL):c.561+8C>G rs372648949 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00005
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000191.3(HMGCL):c.348G>A (p.Ala116=) rs189198317 0.00004
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg) rs764292245 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710 0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr) rs368688262 0.00004
NM_000191.3(HMGCL):c.108G>C (p.Val36=) rs142612053 0.00003
NM_000191.3(HMGCL):c.21G>A (p.Ala7=) rs751528960 0.00003
NM_000191.3(HMGCL):c.339C>T (p.Phe113=) rs112352538 0.00003
NM_000191.3(HMGCL):c.348+14T>G rs779036975 0.00003
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val) rs930659830 0.00003
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423 0.00003
NM_000191.3(HMGCL):c.60+18C>T rs1012054316 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000191.3(HMGCL):c.6A>G (p.Ala2=) rs375969301 0.00003
NM_000191.3(HMGCL):c.750+14T>C rs778868742 0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp) rs759745527 0.00003
NM_000191.3(HMGCL):c.165G>A (p.Val55=) rs1173716795 0.00002
NM_000191.3(HMGCL):c.168A>G (p.Lys56=) rs1291707271 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu) rs759086876 0.00002
NM_000191.3(HMGCL):c.324A>G (p.Pro108=) rs932601140 0.00002
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly) rs905961108 0.00002
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu) rs377359510 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000191.3(HMGCL):c.549T>A (p.Ala183=) rs61743700 0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val) rs764360500 0.00002
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861 0.00002
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) rs990313450 0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser) rs764926275 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000191.3(HMGCL):c.750+19C>T rs370304889 0.00002
NM_000191.3(HMGCL):c.774T>C (p.Ser258=) rs568796561 0.00002
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000191.3(HMGCL):c.843G>A (p.Leu281=) rs773635833 0.00002
NM_000191.3(HMGCL):c.877-16A>G rs763250288 0.00002
NM_000191.3(HMGCL):c.877-7C>T rs750545040 0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly) rs1467902610 0.00001
NM_000191.3(HMGCL):c.141A>G (p.Glu47=) rs776280224 0.00001
NM_000191.3(HMGCL):c.144+16A>G rs1638698310 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000191.3(HMGCL):c.145-4A>G rs963436984 0.00001
NM_000191.3(HMGCL):c.145-7A>C rs1330736884 0.00001
NM_000191.3(HMGCL):c.153A>G (p.Val51=) rs945207802 0.00001
NM_000191.3(HMGCL):c.159T>A (p.Thr53=) rs1638634324 0.00001
NM_000191.3(HMGCL):c.21G>T (p.Ala7=) rs751528960 0.00001
NM_000191.3(HMGCL):c.252+10A>G rs1194729820 0.00001
NM_000191.3(HMGCL):c.252+17A>G rs773700977 0.00001
NM_000191.3(HMGCL):c.252+8C>G rs759149770 0.00001
NM_000191.3(HMGCL):c.27G>T (p.Pro9=) rs1337954372 0.00001
NM_000191.3(HMGCL):c.30G>A (p.Arg10=) rs1284448239 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) rs761706911 0.00001
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val) rs368145582 0.00001
NM_000191.3(HMGCL):c.348+7G>A rs746088233 0.00001
NM_000191.3(HMGCL):c.349-10A>T rs755304948 0.00001
NM_000191.3(HMGCL):c.349-15C>T rs1638575910 0.00001
NM_000191.3(HMGCL):c.390C>T (p.Ala130=) rs141872588 0.00001
NM_000191.3(HMGCL):c.399C>T (p.Leu133=) rs760474502 0.00001
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156 0.00001
NM_000191.3(HMGCL):c.477A>C (p.Ser159=) rs1304272931 0.00001
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser) rs140572587 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000191.3(HMGCL):c.497+13A>G rs1217727024 0.00001
NM_000191.3(HMGCL):c.498-14_498-13del rs753940756 0.00001
NM_000191.3(HMGCL):c.498-16C>T rs778584428 0.00001
NM_000191.3(HMGCL):c.498-7C>T rs764007608 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306 0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg) rs747529727 0.00001
NM_000191.3(HMGCL):c.561+20C>T rs781059597 0.00001
NM_000191.3(HMGCL):c.561+7G>A rs773091131 0.00001
NM_000191.3(HMGCL):c.561+9A>G rs369289041 0.00001
NM_000191.3(HMGCL):c.562-18G>A rs754904128 0.00001
NM_000191.3(HMGCL):c.562-20G>C rs781149246 0.00001
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061 0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) rs1303119110 0.00001
NM_000191.3(HMGCL):c.60+20G>A rs759619708 0.00001
NM_000191.3(HMGCL):c.60+7G>A rs368461149 0.00001
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 0.00001
NM_000191.3(HMGCL):c.627C>T (p.Gly209=) rs1201298834 0.00001
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313 0.00001
NM_000191.3(HMGCL):c.649A>G (p.Met217Val) rs767993106 0.00001
NM_000191.3(HMGCL):c.687C>T (p.Ala229=) rs1638447338 0.00001
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del) rs1638447240 0.00001
NM_000191.3(HMGCL):c.699C>T (p.His233=) rs1638447140 0.00001
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs) rs1226874636 0.00001
NM_000191.3(HMGCL):c.711C>T (p.Thr237=) rs754976763 0.00001
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys) rs752132032 0.00001
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=) rs1638446662 0.00001
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs) rs774211779 0.00001
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025 0.00001
NM_000191.3(HMGCL):c.750+14del rs889708681 0.00001
NM_000191.3(HMGCL):c.750+8A>G rs771868826 0.00001
NM_000191.3(HMGCL):c.751-10A>G rs772248147 0.00001
NM_000191.3(HMGCL):c.751-11T>C rs775623783 0.00001
NM_000191.3(HMGCL):c.751-3T>C rs1356054021 0.00001
NM_000191.3(HMGCL):c.751-9T>C rs746009689 0.00001
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly) rs774398630 0.00001
NM_000191.3(HMGCL):c.762T>C (p.Ser254=) rs983682054 0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met) rs764238653 0.00001
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg) rs750347526 0.00001
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg) rs550489427 0.00001
NM_000191.3(HMGCL):c.816A>T (p.Ala272=) rs141340718 0.00001
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg) rs1391067821 0.00001
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser) rs774486153 0.00001
NM_000191.3(HMGCL):c.825C>T (p.Asn275=) rs1287973337 0.00001
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194 0.00001
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568 0.00001
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp) rs755329065 0.00001
NM_000191.3(HMGCL):c.876+17C>G rs1301375960 0.00001
NM_000191.3(HMGCL):c.876+19del rs1638361298 0.00001
NM_000191.3(HMGCL):c.876+20G>A rs749917434 0.00001
NM_000191.3(HMGCL):c.877-17dup rs1557484736 0.00001
NM_000191.3(HMGCL):c.90A>G (p.Pro30=) rs767787302 0.00001
NM_000191.3(HMGCL):c.921T>C (p.Cys307=) rs777324642 0.00001
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406 0.00001
NM_000191.3(HMGCL):c.977G>A (p.Ter326=) rs1303767209 0.00001
NC_000001.10:g.(?_19199339)_(24690861_?)dup
NC_000001.10:g.(?_24122439)_(24134833_?)del
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NC_000001.10:g.(?_24127494)_(24130949_?)del
NC_000001.10:g.(?_24128943)_(24129064_?)del
NC_000001.10:g.(?_24128943)_(24131025_?)del
NC_000001.10:g.(?_24132578)_(24134831_?)del
NC_000001.10:g.(?_24137216)_(24140838_?)del
NC_000001.10:g.(?_24137216)_(24151915_?)del
NC_000001.10:g.(?_24140670)_(24140838_?)del
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.10:g.(?_24146980)_(24147103_?)del
NC_000001.10:g.(?_24146990)_(24151915_?)del
NC_000001.10:g.(?_24151826)_(24151905_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NM_000191.3(HMGCL):c.102A>G (p.Lys34=) rs2521476240
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe) rs1638699591
NM_000191.3(HMGCL):c.121C>A (p.Arg41=) rs770225915
NM_000191.3(HMGCL):c.123A>T (p.Arg41=) rs2148425859
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile) rs1400114765
NM_000191.3(HMGCL):c.130C>T (p.Leu44=) rs2521476036
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter) rs2148425853
NM_000191.3(HMGCL):c.137dup (p.Asn46fs) rs1638698938
NM_000191.3(HMGCL):c.144+15G>T rs1638698379
NM_000191.3(HMGCL):c.144+18C>G rs1307803162
NM_000191.3(HMGCL):c.144+20A>C rs1239447690
NM_000191.3(HMGCL):c.144+2T>C rs1001955490
NM_000191.3(HMGCL):c.144+4A>G rs970061689
NM_000191.3(HMGCL):c.144+8T>G rs2148425829
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn) rs2521475979
NM_000191.3(HMGCL):c.145-11C>G rs1638635256
NM_000191.3(HMGCL):c.145-16TC[3] rs2148424266
NM_000191.3(HMGCL):c.145-19G>A rs1638635382
NM_000191.3(HMGCL):c.145-1G>C rs1299646067
NM_000191.3(HMGCL):c.145-5T>A rs1185120937
NM_000191.3(HMGCL):c.145-6C>T rs2148424258
NM_000191.3(HMGCL):c.145-7A>G rs1330736884
NM_000191.3(HMGCL):c.145-9C>T rs2521459947
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp) rs1638634965
NM_000191.3(HMGCL):c.150C>A (p.Ile50=) rs376705029
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala) rs1251022689
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu) rs568927905
NM_000191.3(HMGCL):c.171C>T (p.Ile57=) rs2148424231
NM_000191.3(HMGCL):c.174G>A (p.Lys58=) rs2148424227
NM_000191.3(HMGCL):c.177G>T (p.Leu59=) rs1375512664
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs) rs1259779697
NM_000191.3(HMGCL):c.183C>T (p.Asp61=) rs755922538
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu) rs373738626
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe) rs2521459453
NM_000191.3(HMGCL):c.189T>C (p.Leu63=)
NM_000191.3(HMGCL):c.195A>G (p.Glu65=) rs2148424193
NM_000191.3(HMGCL):c.201A>G (p.Gly67=)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208_209del (p.Val70fs) rs2148424175
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val) rs754437215
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.225C>T (p.Ser75=) rs1357942068
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.231G>A (p.Val77=) rs2521459113
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe) rs754253328
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter) rs2148424154
NM_000191.3(HMGCL):c.24T>C (p.Leu8=) rs2148428459
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter) rs2521458985
NM_000191.3(HMGCL):c.252+10A>T rs1194729820
NM_000191.3(HMGCL):c.252+12C>A rs2521458839
NM_000191.3(HMGCL):c.252+14C>T rs1638631615
NM_000191.3(HMGCL):c.252+18A>G rs771039622
NM_000191.3(HMGCL):c.252+19T>C rs941376913
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.252+1G>C rs775218067
NM_000191.3(HMGCL):c.253-18G>A rs1638621629
NM_000191.3(HMGCL):c.253-5C>T
NM_000191.3(HMGCL):c.253-7T>C rs1391681111
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.274T>C (p.Leu92=) rs2521455545
NM_000191.3(HMGCL):c.27G>C (p.Pro9=) rs1337954372
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr) rs2148428492
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.315C>G (p.Val105=) rs1219923938
NM_000191.3(HMGCL):c.319del (p.Thr107fs) rs2521455305
NM_000191.3(HMGCL):c.321C>A (p.Thr107=) rs1209826847
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser) rs2148423771
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu) rs1638619737
NM_000191.3(HMGCL):c.336C>A (p.Gly112=) rs1280790585
NM_000191.3(HMGCL):c.336C>G (p.Gly112=) rs1280790585
NM_000191.3(HMGCL):c.33A>G (p.Arg11=) rs2148428444
NM_000191.3(HMGCL):c.33A>T (p.Arg11=) rs2148428444
NM_000191.3(HMGCL):c.348+13C>G
NM_000191.3(HMGCL):c.348+17_348+19del rs2521454984
NM_000191.3(HMGCL):c.348+1G>A rs1322650779
NM_000191.3(HMGCL):c.348+20G>A rs1420341736
NM_000191.3(HMGCL):c.348+7_348+9dup rs2521455045
NM_000191.3(HMGCL):c.349-10A>G rs755304948
NM_000191.3(HMGCL):c.349-17C>G rs1328160786
NM_000191.3(HMGCL):c.349-19T>A rs2521441822
NM_000191.3(HMGCL):c.349-4G>A rs2521441762
NM_000191.3(HMGCL):c.349-8G>T rs770814366
NM_000191.3(HMGCL):c.349_361del rs2521441733
NM_000191.3(HMGCL):c.34C>T (p.Leu12=) rs2148428443
NM_000191.3(HMGCL):c.357T>A (p.Ala119=) rs2148422516
NM_000191.3(HMGCL):c.360A>T (p.Gly120=) rs2521441737
NM_000191.3(HMGCL):c.374_375del (p.Val125fs) rs1638575413
NM_000191.3(HMGCL):c.378C>T (p.Ile126=) rs2148422513
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly) rs1244160232
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer) rs1638575128
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs) rs2521441229
NM_000191.3(HMGCL):c.402C>T (p.Phe134=) rs11551767
NM_000191.3(HMGCL):c.405C>G (p.Thr135=) rs2521441241
NM_000191.3(HMGCL):c.408G>A (p.Lys136=) rs2521441196
NM_000191.3(HMGCL):c.411G>A (p.Lys137=) rs1638574541
NM_000191.3(HMGCL):c.414C>T (p.Asn138=) rs2521441121
NM_000191.3(HMGCL):c.423T>C (p.Cys141=) rs2148422474
NM_000191.3(HMGCL):c.42C>T (p.Gly14=) rs1638799252
NM_000191.3(HMGCL):c.436A>G (p.Ser146Gly)
NM_000191.3(HMGCL):c.441T>C (p.Phe147=) rs777819749
NM_000191.3(HMGCL):c.456A>G (p.Ala152=) rs2148422453
NM_000191.3(HMGCL):c.460C>T (p.Leu154=) rs2148422448
NM_000191.3(HMGCL):c.468A>G (p.Ala156=) rs1017877874
NM_000191.3(HMGCL):c.471G>T (p.Ala157=)
NM_000191.3(HMGCL):c.477del (p.Ala160fs) rs2521440800
NM_000191.3(HMGCL):c.484dup (p.Ile162fs) rs2521440743
NM_000191.3(HMGCL):c.48G>C (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.48_60+289del rs2521505359
NM_000191.3(HMGCL):c.497+10A>G rs2521440606
NM_000191.3(HMGCL):c.497+1G>A rs766648383
NM_000191.3(HMGCL):c.497+20T>A rs2521440490
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.498-12G>A rs756737191
NM_000191.3(HMGCL):c.498-12G>C rs756737191
NM_000191.3(HMGCL):c.498-15C>T
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.513T>C (p.Ala171=) rs1638506742
NM_000191.3(HMGCL):c.519C>T (p.Gly173=) rs2521419601
NM_000191.3(HMGCL):c.51C>A (p.Ser17=) rs2148428415
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.534del (p.Lys179fs)
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met) rs2148420690
NM_000191.3(HMGCL):c.545del (p.Pro182fs) rs2148420687
NM_000191.3(HMGCL):c.54C>G (p.Leu18=) rs1638799028
NM_000191.3(HMGCL):c.54C>T (p.Leu18=) rs1638799028
NM_000191.3(HMGCL):c.558T>A (p.Ala186=) rs1638505746
NM_000191.3(HMGCL):c.561+13G>A rs755556712
NM_000191.3(HMGCL):c.561+15C>A rs2521418947
NM_000191.3(HMGCL):c.561+19G>A rs1239783360
NM_000191.3(HMGCL):c.561+1G>T rs2521419194
NM_000191.3(HMGCL):c.561+20_561+23del
NM_000191.3(HMGCL):c.561+7G>C rs773091131
NM_000191.3(HMGCL):c.562-12T>C rs905500194
NM_000191.3(HMGCL):c.562-14G>A rs751368427
NM_000191.3(HMGCL):c.562-14G>C rs751368427
NM_000191.3(HMGCL):c.562-16C>T rs2521405676
NM_000191.3(HMGCL):c.562-1G>A rs2521405619
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.562-8T>C rs2148419215
NM_000191.3(HMGCL):c.564C>A (p.Val188=) rs779911061
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro) rs1221071615
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln) rs149526487
NM_000191.3(HMGCL):c.597G>A (p.Glu199=) rs2148419180
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val) rs1438225471
NM_000191.3(HMGCL):c.60+10C>T rs1376192506
NM_000191.3(HMGCL):c.60+12G>T rs1638798563
NM_000191.3(HMGCL):c.60+1G>C rs1324641233
NM_000191.3(HMGCL):c.60+6T>A rs2148428401
NM_000191.3(HMGCL):c.60+7G>C rs368461149
NM_000191.3(HMGCL):c.60+7G>T rs368461149
NM_000191.3(HMGCL):c.60+8C>A rs2521508440
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.60_60+18del
NM_000191.3(HMGCL):c.61-11T>C rs2521476899
NM_000191.3(HMGCL):c.61-13T>C rs1357906142
NM_000191.3(HMGCL):c.61-14C>T rs2521476925
NM_000191.3(HMGCL):c.61-16C>T rs2521476952
NM_000191.3(HMGCL):c.61-1G>C rs1638701269
NM_000191.3(HMGCL):c.61-4A>G rs201383303
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.621T>G (p.Gly207=) rs1638449170
NM_000191.3(HMGCL):c.627C>A (p.Gly209=) rs1201298834
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.652C>T (p.Leu218=) rs779813777
NM_000191.3(HMGCL):c.657T>C (p.Ser219=)
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile) rs745624801
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.675G>C (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr) rs2521404800
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp) rs752913892
NM_000191.3(HMGCL):c.687C>A (p.Ala229=) rs1638447338
NM_000191.3(HMGCL):c.6A>T (p.Ala2=) rs375969301
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>G (p.Thr237=) rs754976763
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr) rs763416473
NM_000191.3(HMGCL):c.724C>T (p.Leu242=)
NM_000191.3(HMGCL):c.72A>C (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.72A>G (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.732C>T (p.Asn244=) rs1638446095
NM_000191.3(HMGCL):c.735C>G (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>T (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.736T>C (p.Leu246=) rs143823689
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val) rs2521404046
NM_000191.3(HMGCL):c.745C>T (p.Leu249=) rs2521404040
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.750+18C>T rs1048814450
NM_000191.3(HMGCL):c.750+2T>C rs2521404010
NM_000191.3(HMGCL):c.750+6C>T rs775543942
NM_000191.3(HMGCL):c.751-10_751-9del rs1638366878
NM_000191.3(HMGCL):c.751-12T>A
NM_000191.3(HMGCL):c.751-13C>G rs2521382785
NM_000191.3(HMGCL):c.751-15T>A rs2521382797
NM_000191.3(HMGCL):c.751-17C>T rs1222176308
NM_000191.3(HMGCL):c.751-4C>T rs2521382641
NM_000191.3(HMGCL):c.751-7T>C rs2148417068
NM_000191.3(HMGCL):c.751-8G>A rs2521382695
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.765C>A (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.769del (p.Asp257fs) rs2148417048
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu) rs756958205
NM_000191.3(HMGCL):c.771C>T (p.Asp257=) rs1300668281
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser) rs2521382161
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.795C>T (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser) rs1220289416
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.801C>T (p.Pro267=) rs2521382051
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val) rs761552111
NM_000191.3(HMGCL):c.810G>A (p.Gln270=)
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser) rs1638363983
NM_000191.3(HMGCL):c.826T>C (p.Leu276=) rs2148416982
NM_000191.3(HMGCL):c.840C>T (p.Asp280=) rs749367428
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val) rs1638363122
NM_000191.3(HMGCL):c.841C>T (p.Leu281=) rs1638363122
NM_000191.3(HMGCL):c.846C>T (p.Val282=) rs2148416963
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=) rs2521381296
NM_000191.3(HMGCL):c.862T>C (p.Leu288=) rs2521381121
NM_000191.3(HMGCL):c.866del (p.Gly289fs) rs1638362423
NM_000191.3(HMGCL):c.874_876+31del rs2521380537
NM_000191.3(HMGCL):c.874dup (p.Thr292fs) rs2521380983
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met) rs1638362250
NM_000191.3(HMGCL):c.876+14C>A rs1211196871
NM_000191.3(HMGCL):c.876+18del rs2521380742
NM_000191.3(HMGCL):c.876+5_876+8dup rs1261907415
NM_000191.3(HMGCL):c.876+7C>A rs2521380905
NM_000191.3(HMGCL):c.876+9A>G rs1570642184
NM_000191.3(HMGCL):c.876G>T (p.Thr292=) rs753754467
NM_000191.3(HMGCL):c.877-11G>T rs1570640519
NM_000191.3(HMGCL):c.877-17T>C rs2521367193
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala) rs1348862182
NM_000191.3(HMGCL):c.888C>T (p.Leu296=) rs2521366937
NM_000191.3(HMGCL):c.894G>A (p.Lys298=) rs761934596
NM_000191.3(HMGCL):c.897T>A (p.Leu299=) rs992734996
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro) rs2148415814
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu) rs1638700415
NM_000191.3(HMGCL):c.909A>G (p.Gly303=) rs2521366785
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000191.3(HMGCL):c.915T>C (p.Phe305=) rs2148415809
NM_000191.3(HMGCL):c.918C>T (p.Ile306=) rs2148415804
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr) rs1557484669
NM_000191.3(HMGCL):c.93G>A (p.Lys31=) rs1638700248
NM_000191.3(HMGCL):c.942T>A (p.Thr314=) rs2148415779
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.960G>A (p.Gln320=) rs752574198
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp) rs2521366255
NM_000191.3(HMGCL):c.966C>G (p.Thr322=) rs1638300920
NM_000191.3(HMGCL):c.969T>C (p.Cys323=) rs2148415747

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