ClinVar Miner

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

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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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.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.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.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT rs864622693
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
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.2316-6del 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.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.498T>C (p.Pro166=) rs150193069
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
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
NM_000170.3(GLDC):c.2920-8C>T
NM_000170.3(GLDC):c.861+10C>T
NM_000277.3(PAH):c.*19G>T rs372637021
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.500A>G (p.Asn167Ser) rs77554925
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.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_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
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=)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612
NM_001024845.3(SLC6A9):c.31-697C>G
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser)
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=)
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=)
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
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)
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.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
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.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.4(ACADSB):c.726G>A (p.Pro242=)
NM_002168.4(IDH2):c.1302C>G (p.Thr434=)
NM_002168.4(IDH2):c.207+4G>A
NM_002168.4(IDH2):c.942T>C (p.Asp314=)
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)
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=)
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
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=)
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
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=)
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_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)
NM_005881.4(BCKDK):c.845+10C>T rs74015068
NM_016335.5(PRODH):c.1217C>T (p.Pro406Leu)
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)
NM_016335.5(PRODH):c.172G>A (p.Ala58Thr) rs146648839
NM_016335.5(PRODH):c.23C>T (p.Pro8Leu)
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
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=)
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser)
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.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
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.1308A>G (p.Gly436=) rs113782371
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)
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.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=)

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