ClinVar Miner

List of variants reported as benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 340
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HGVS dbSNP
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) rs80099330
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*299G>A rs12613
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*566G>A rs111969522
NM_000071.2(CBS):c.*81G>A rs115406358
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.*681A>G
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000170.2(GLDC):c.*410G>C rs35834773
NM_000170.2(GLDC):c.*473C>T rs1061407
NM_000170.2(GLDC):c.*540C>T rs7848919
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1508A>C (p.Glu503Ala) rs201890453
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.222C>T (p.Asp74=) rs148373517
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2316-6del rs3215923
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2457+8C>T rs147308839
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.249G>A (p.Gly83=) rs12341698
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.438G>A (p.Thr146=) rs13289273
NM_000170.2(GLDC):c.470+11T>C rs142534180
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.501G>A (p.Glu167=) rs35374927
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.660C>T (p.Leu220=) rs2228095
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221
NM_000170.3(GLDC):c.2920-8C>T rs138786708
NM_000170.3(GLDC):c.861+10C>T rs565335444
NM_000277.3(PAH):c.*187G>A rs1801153
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.-71A>C rs2280615
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.168+19T>C rs17842947
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+43G>T rs1522306
NM_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
NM_000481.4(AMT):c.*696C>T rs10640
NM_000481.4(AMT):c.-1G>A rs143841175
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) rs76354303
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612
NM_001024845.3(SLC6A9):c.31-697C>G rs187474842
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) rs61741712
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) rs140091591
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) rs72890664
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181
NM_001032386.2(SUOX):c.-107C>T
NM_001032386.2(SUOX):c.-32C>T rs705703
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001032386.2(SUOX):c.977C>A (p.Thr326Asn) rs540920017
NM_001289910.1(IDH2):c.1148C>T (p.Thr383Met) rs118053940
NM_001289910.1(IDH2):c.171G>A (p.Val57=) rs150943639
NM_001289910.1(IDH2):c.273G>C (p.Leu91=) rs144712130
NM_001289910.1(IDH2):c.626G>A (p.Arg209His) rs118101777
NM_001289910.1(IDH2):c.783A>G (p.Gly261=) rs16943901
NM_001289910.1(IDH2):c.837G>A (p.Thr279=) rs61737002
NM_001289910.1(IDH2):c.882C>T (p.Ala294=) rs190078206
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001358530.2(MOCS1):c.*1002C>T rs115706925
NM_001358530.2(MOCS1):c.*1113T>G rs3828937
NM_001358530.2(MOCS1):c.*1136A>C rs60326448
NM_001358530.2(MOCS1):c.*1334A>C rs3749999
NM_001358530.2(MOCS1):c.*1405G>C rs3749998
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1775_*1778dup rs112997952
NM_001358530.2(MOCS1):c.*1893G>C rs3008816
NM_001358530.2(MOCS1):c.*1928C>G rs73414848
NM_001358530.2(MOCS1):c.*378G>A rs11968529
NM_001358530.2(MOCS1):c.*451C>T rs41273136
NM_001358530.2(MOCS1):c.*578C>T rs147395035
NM_001358530.2(MOCS1):c.*734C>G rs1063171
NM_001358530.2(MOCS1):c.*824C>G rs11968491
NM_001358530.2(MOCS1):c.*987C>T rs7758412
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.124-216A>G rs3008822
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.583+10T>A rs34757428
NM_001358530.2(MOCS1):c.583+6C>T rs111409017
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.4(ACADSB):c.*133C>G
NM_001609.4(ACADSB):c.*2670C>T
NM_001609.4(ACADSB):c.*3736G>T
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) rs150574164
NM_002168.4(IDH2):c.207+4G>A rs77995170
NM_002168.4(IDH2):c.942T>C (p.Asp314=) rs142721369
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2940G>A rs6898333
NM_002203.4(ITGA2):c.*2999A>G rs6880055
NM_002203.4(ITGA2):c.*3026A>G rs7719848
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3986A>C rs7725246
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*721A>C rs1109527
NM_002203.4(ITGA2):c.*894C>T rs1109526
NM_003748.4(ALDH4A1):c.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_004483.4(GCSH):c.252T>C (p.Tyr84=) rs8177907
NM_004483.4(GCSH):c.261C>G (p.Leu87=) rs8177908
NM_004483.4(GCSH):c.292+9T>G rs8177909
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847
NM_004531.5(MOCS2):c.*1011G>A
NM_004531.5(MOCS2):c.*1544C>A
NM_004531.5(MOCS2):c.*1673T>C
NM_004531.5(MOCS2):c.*1872C>T
NM_004531.5(MOCS2):c.*2032G>A
NM_004531.5(MOCS2):c.*2158C>T
NM_004531.5(MOCS2):c.*2415C>T
NM_004531.5(MOCS2):c.*2582A>C
NM_004531.5(MOCS2):c.*2651G>T
NM_004531.5(MOCS2):c.*321A>G rs73756618
NM_004531.5(MOCS2):c.*566C>T
NM_004531.5(MOCS2):c.*735G>A
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) rs73530211
NM_005881.4(BCKDK):c.845+10C>T rs74015068
NM_016335.5(PRODH):c.1217C>T (p.Pro406Leu) rs3970555
NM_016335.5(PRODH):c.1279G>A (p.Val427Met) rs2238731
NM_016335.5(PRODH):c.1362G>A (p.Ala454=) rs2238730
NM_016335.5(PRODH):c.1374C>A (p.Gly458=) rs2904550
NM_016335.5(PRODH):c.1440C>T (p.Tyr480=) rs5992333
NM_016335.5(PRODH):c.14G>A (p.Arg5His) rs549947897
NM_016335.5(PRODH):c.172G>A (p.Ala58Thr) rs146648839
NM_016335.5(PRODH):c.23C>T (p.Pro8Leu) rs181332931
NM_016335.5(PRODH):c.553= (p.Trp185=) rs4819756
NM_016335.5(PRODH):c.554G>A (p.Trp185Ter) rs11913840
NM_016335.5(PRODH):c.650G>A (p.Arg217His) rs148375080
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_020806.4(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.4(GPHN):c.1414-4A>C rs111956954
NM_020806.4(GPHN):c.1734T>C (p.Gly578=) rs77465022
NM_020806.4(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.4(GPHN):c.2176+9T>C rs74939746
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.64+8G>C rs201245603
NM_020806.4(GPHN):c.963+10G>A rs41310850
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
NM_152783.5(D2HGDH):c.*254G>A rs6713318
NM_152783.5(D2HGDH):c.*266G>A rs145823152
NM_152783.5(D2HGDH):c.*26C>T rs141211991
NM_152783.5(D2HGDH):c.*27C>T rs150707660
NM_152783.5(D2HGDH):c.*427G>A rs142873084
NM_152783.5(D2HGDH):c.*433G>T
NM_152783.5(D2HGDH):c.*449C>T rs4234096
NM_152783.5(D2HGDH):c.*661C>T rs113372064
NM_152783.5(D2HGDH):c.*688G>A rs6716743
NM_152783.5(D2HGDH):c.*778C>T rs6746151
NM_152783.5(D2HGDH):c.*801A>G rs35671465
NM_152783.5(D2HGDH):c.*93T>C rs11552660
NM_152783.5(D2HGDH):c.-91C>G rs62191976
NM_152783.5(D2HGDH):c.-99A>G rs7370843
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1307-15C>T
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.854-1200C>T rs35386923
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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