ClinVar Miner

List of variants reported as likely benign for Tyrosinemia type II

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_000353.3(TAT):c.*813G>C rs182924845 0.00777
NM_000353.3(TAT):c.929T>C (p.Val310Ala) rs143213566 0.00076
NM_000353.3(TAT):c.*682T>C rs118086978 0.00070
NM_000353.3(TAT):c.592C>T (p.Leu198=) rs148656877 0.00022
NM_000353.3(TAT):c.*863G>A rs185984423 0.00020
NM_000353.3(TAT):c.69C>T (p.Asn23=) rs370850249 0.00007
NM_000353.3(TAT):c.231C>A (p.Ser77=) rs562235592 0.00006
NM_000353.3(TAT):c.235+11G>C rs376600004 0.00006
NM_000353.3(TAT):c.93G>A (p.Pro31=) rs757389308 0.00006
NM_000353.3(TAT):c.408+10A>T rs766194831 0.00005
NM_000353.3(TAT):c.1239G>A (p.Pro413=) rs146926467 0.00004
NM_000353.3(TAT):c.192G>A (p.Lys64=) rs1246137962 0.00004
NM_000353.3(TAT):c.360G>A (p.Glu120=) rs752517713 0.00004
NM_000353.3(TAT):c.1164C>T (p.Asn388=) rs148342760 0.00003
NM_000353.3(TAT):c.378C>T (p.Tyr126=) rs1169609060 0.00003
NM_000353.3(TAT):c.426T>C (p.Ser142=) rs754808935 0.00003
NM_000353.3(TAT):c.760-12G>A rs1218875252 0.00003
NM_000353.3(TAT):c.942G>A (p.Gln314=) rs1395182099 0.00003
NM_000353.3(TAT):c.1008A>G (p.Gly336=) rs377685329 0.00002
NM_000353.3(TAT):c.324C>T (p.Gly108=) rs1400528245 0.00002
NM_000353.3(TAT):c.411C>T (p.Asp137=) rs757380584 0.00002
NM_000353.3(TAT):c.528T>C (p.Ala176=) rs774778427 0.00002
NM_000353.3(TAT):c.660C>T (p.Pro220=) rs1404599153 0.00002
NM_000353.3(TAT):c.759+8T>A rs761791218 0.00002
NM_000353.3(TAT):c.84C>T (p.Ser28=) rs184872582 0.00002
NM_000353.3(TAT):c.*1056G>C rs535439847 0.00001
NM_000353.3(TAT):c.1041+10G>A rs757195169 0.00001
NM_000353.3(TAT):c.1042-12C>T rs748571289 0.00001
NM_000353.3(TAT):c.1050T>C (p.Ala350=) rs1323649409 0.00001
NM_000353.3(TAT):c.1125+10T>C rs746015147 0.00001
NM_000353.3(TAT):c.1126-14T>C rs776899240 0.00001
NM_000353.3(TAT):c.1146T>C (p.His382=) rs141534499 0.00001
NM_000353.3(TAT):c.1179G>A (p.Thr393=) rs760896128 0.00001
NM_000353.3(TAT):c.117C>G (p.Ala39=) rs1451272406 0.00001
NM_000353.3(TAT):c.1225-5T>C rs760804060 0.00001
NM_000353.3(TAT):c.1236C>T (p.Tyr412=) rs1441677896 0.00001
NM_000353.3(TAT):c.1269C>T (p.Pro423=) rs779346474 0.00001
NM_000353.3(TAT):c.1290G>A (p.Ala430=) rs767563000 0.00001
NM_000353.3(TAT):c.12C>T (p.Tyr4=) rs773782377 0.00001
NM_000353.3(TAT):c.207A>G (p.Pro69=) rs1383405389 0.00001
NM_000353.3(TAT):c.236-8A>G rs1331039178 0.00001
NM_000353.3(TAT):c.341-7C>G rs1291363507 0.00001
NM_000353.3(TAT):c.348A>C (p.Leu116=) rs1020645107 0.00001
NM_000353.3(TAT):c.351C>T (p.Ser117=) rs977686877 0.00001
NM_000353.3(TAT):c.408+7C>G rs1489466141 0.00001
NM_000353.3(TAT):c.438A>G (p.Gln146=) rs550620178 0.00001
NM_000353.3(TAT):c.568-9T>C rs958672860 0.00001
NM_000353.3(TAT):c.570A>G (p.Pro190=) rs147832751 0.00001
NM_000353.3(TAT):c.760-8C>G rs368379963 0.00001
NM_000353.3(TAT):c.840G>A (p.Lys280=) rs747797659 0.00001
NM_000353.3(TAT):c.870C>G (p.Gly290=) rs746209091 0.00001
NM_000353.3(TAT):c.885T>C (p.His295=) rs764232948 0.00001
NM_000353.3(TAT):c.933G>A (p.Lys311=) rs774056969 0.00001
NM_000353.3(TAT):c.1002C>T (p.Thr334=)
NM_000353.3(TAT):c.1017C>T (p.Tyr339=) rs2044192494
NM_000353.3(TAT):c.1020C>T (p.His340=)
NM_000353.3(TAT):c.1038C>G (p.Leu346=)
NM_000353.3(TAT):c.1041+13C>T
NM_000353.3(TAT):c.1041+14C>T
NM_000353.3(TAT):c.1041+17C>T
NM_000353.3(TAT):c.1041+19C>G
NM_000353.3(TAT):c.1041+19C>T
NM_000353.3(TAT):c.1042-10C>T rs2145230359
NM_000353.3(TAT):c.1042-12del
NM_000353.3(TAT):c.1042-15T>C
NM_000353.3(TAT):c.1042-16T>C
NM_000353.3(TAT):c.1042-5del rs2145230340
NM_000353.3(TAT):c.1042-6T>G
NM_000353.3(TAT):c.1042-9T>G rs2145230358
NM_000353.3(TAT):c.1047T>C (p.Asn349=)
NM_000353.3(TAT):c.1062T>C (p.Tyr354=) rs2145230300
NM_000353.3(TAT):c.1065G>A (p.Gly355=) rs2145230298
NM_000353.3(TAT):c.1068G>A (p.Ala356=) rs202010343
NM_000353.3(TAT):c.1068G>T (p.Ala356=) rs202010343
NM_000353.3(TAT):c.1069T>C (p.Leu357=) rs2145230289
NM_000353.3(TAT):c.1098C>A (p.Val366=)
NM_000353.3(TAT):c.1098C>G (p.Val366=)
NM_000353.3(TAT):c.1098C>T (p.Val366=) rs1019496970
NM_000353.3(TAT):c.1113T>G (p.Ala371=) rs2145230234
NM_000353.3(TAT):c.1119C>T (p.Tyr373=) rs2044188170
NM_000353.3(TAT):c.1122C>T (p.Leu374=)
NM_000353.3(TAT):c.1125+10T>A
NM_000353.3(TAT):c.1125+11G>A
NM_000353.3(TAT):c.1125+15G>A
NM_000353.3(TAT):c.1125+15_1125+17del
NM_000353.3(TAT):c.1125+16G>A
NM_000353.3(TAT):c.1125+8T>C rs2145230218
NM_000353.3(TAT):c.1125+9G>A rs2145230217
NM_000353.3(TAT):c.1126-10G>A rs1283939487
NM_000353.3(TAT):c.1126-15C>T
NM_000353.3(TAT):c.1126-17C>T
NM_000353.3(TAT):c.1126-6G>T rs2044181609
NM_000353.3(TAT):c.1126-8T>C
NM_000353.3(TAT):c.1131A>C (p.Gly377=) rs1401197763
NM_000353.3(TAT):c.1143A>G (p.Glu381=)
NM_000353.3(TAT):c.1152A>C (p.Pro384=) rs764717482
NM_000353.3(TAT):c.1152A>G (p.Pro384=) rs764717482
NM_000353.3(TAT):c.1155A>G (p.Glu385=) rs1218085116
NM_000353.3(TAT):c.1170G>T (p.Val390=) rs2145229327
NM_000353.3(TAT):c.1185G>A (p.Arg395=)
NM_000353.3(TAT):c.1203T>G (p.Ser401=) rs2145229287
NM_000353.3(TAT):c.1206C>T (p.Val402=) rs2145229284
NM_000353.3(TAT):c.1209C>T (p.His403=) rs2145229277
NM_000353.3(TAT):c.1221A>G (p.Ala407=)
NM_000353.3(TAT):c.1224+11G>T
NM_000353.3(TAT):c.1224+8C>T
NM_000353.3(TAT):c.1224+9_1224+10del rs2145229246
NM_000353.3(TAT):c.1225-10C>G
NM_000353.3(TAT):c.1225-12T>C
NM_000353.3(TAT):c.1225-15C>T
NM_000353.3(TAT):c.1233G>A (p.Glu411=) rs775290589
NM_000353.3(TAT):c.1245C>T (p.Phe415=)
NM_000353.3(TAT):c.1248C>T (p.Ile416=) rs1179266660
NM_000353.3(TAT):c.1263A>C (p.Thr421=) rs753180999
NM_000353.3(TAT):c.1266C>T (p.Val422=)
NM_000353.3(TAT):c.1282C>T (p.Leu428=)
NM_000353.3(TAT):c.1293C>T (p.Cys431=) rs2044177266
NM_000353.3(TAT):c.1299G>C (p.Arg433=) rs765229505
NM_000353.3(TAT):c.1311C>T (p.Phe437=)
NM_000353.3(TAT):c.1329T>C (p.His443=) rs529616700
NM_000353.3(TAT):c.1332T>C (p.Cys444=)
NM_000353.3(TAT):c.135C>A (p.Pro45=)
NM_000353.3(TAT):c.147C>G (p.Ala49=) rs370213921
NM_000353.3(TAT):c.159C>T (p.Phe53=) rs748718875
NM_000353.3(TAT):c.210C>T (p.Asn70=) rs2145235930
NM_000353.3(TAT):c.216C>A (p.Thr72=) rs759619191
NM_000353.3(TAT):c.216C>T (p.Thr72=)
NM_000353.3(TAT):c.235+10G>A
NM_000353.3(TAT):c.235+12A>G
NM_000353.3(TAT):c.235+14A>C
NM_000353.3(TAT):c.235+14A>G
NM_000353.3(TAT):c.235+18C>T
NM_000353.3(TAT):c.236-11C>T
NM_000353.3(TAT):c.236-14C>G
NM_000353.3(TAT):c.236-17T>C
NM_000353.3(TAT):c.236-19_236-18del
NM_000353.3(TAT):c.236-6A>G
NM_000353.3(TAT):c.236-6A>T rs2145235741
NM_000353.3(TAT):c.236-9C>T
NM_000353.3(TAT):c.237G>A (p.Gly79=) rs2145235734
NM_000353.3(TAT):c.240C>T (p.Asp80=)
NM_000353.3(TAT):c.246T>G (p.Thr82=)
NM_000353.3(TAT):c.249G>A (p.Val83=) rs2145235720
NM_000353.3(TAT):c.258C>T (p.Asn86=) rs2145235708
NM_000353.3(TAT):c.276A>G (p.Glu92=)
NM_000353.3(TAT):c.309G>C (p.Ser103=) rs78302875
NM_000353.3(TAT):c.312C>G (p.Gly104=) rs1597055707
NM_000353.3(TAT):c.318T>C (p.Tyr106=)
NM_000353.3(TAT):c.321T>C (p.Asn107=) rs2145235638
NM_000353.3(TAT):c.327T>C (p.Tyr109=) rs2145235630
NM_000353.3(TAT):c.330C>T (p.Ala110=)
NM_000353.3(TAT):c.340+13T>C
NM_000353.3(TAT):c.340+19T>A
NM_000353.3(TAT):c.340+20C>A
NM_000353.3(TAT):c.340+8C>T
NM_000353.3(TAT):c.341-11T>C
NM_000353.3(TAT):c.341-13T>C
NM_000353.3(TAT):c.341-16C>T
NM_000353.3(TAT):c.341-18T>C
NM_000353.3(TAT):c.341-8T>C
NM_000353.3(TAT):c.341-8T>G
NM_000353.3(TAT):c.342C>T (p.Gly114=)
NM_000353.3(TAT):c.345C>T (p.Phe115=)
NM_000353.3(TAT):c.348A>G (p.Leu116=) rs1020645107
NM_000353.3(TAT):c.363G>A (p.Glu121=)
NM_000353.3(TAT):c.375T>C (p.Tyr125=)
NM_000353.3(TAT):c.390G>A (p.Glu130=)
NM_000353.3(TAT):c.408+16del
NM_000353.3(TAT):c.408+19A>G
NM_000353.3(TAT):c.408+20C>T
NM_000353.3(TAT):c.408+7_408+9dup
NM_000353.3(TAT):c.408+9T>C rs2044217374
NM_000353.3(TAT):c.409-11T>G
NM_000353.3(TAT):c.409-17T>C
NM_000353.3(TAT):c.409-18C>G
NM_000353.3(TAT):c.409-4A>G
NM_000353.3(TAT):c.409-8C>G
NM_000353.3(TAT):c.429C>T (p.Gly143=)
NM_000353.3(TAT):c.441T>C (p.Ala147=) rs1033713332
NM_000353.3(TAT):c.444T>C (p.Ile148=)
NM_000353.3(TAT):c.447C>T (p.Asp149=)
NM_000353.3(TAT):c.454T>C (p.Leu152=)
NM_000353.3(TAT):c.463T>C (p.Leu155=)
NM_000353.3(TAT):c.471C>T (p.Asn157=) rs1266113476
NM_000353.3(TAT):c.474A>T (p.Pro158=)
NM_000353.3(TAT):c.483C>T (p.Asn161=) rs1466419340
NM_000353.3(TAT):c.486C>T (p.Ile162=)
NM_000353.3(TAT):c.489G>T (p.Leu163=) rs2145232992
NM_000353.3(TAT):c.48A>G (p.Ser16=)
NM_000353.3(TAT):c.492T>C (p.Val164=)
NM_000353.3(TAT):c.498A>G (p.Arg166=)
NM_000353.3(TAT):c.501T>A (p.Pro167=)
NM_000353.3(TAT):c.501T>C (p.Pro167=) rs761320051
NM_000353.3(TAT):c.51T>C (p.Ile17=)
NM_000353.3(TAT):c.522T>G (p.Thr174=) rs2145232971
NM_000353.3(TAT):c.525G>T (p.Leu175=) rs1282159950
NM_000353.3(TAT):c.531G>A (p.Glu177=) rs763295882
NM_000353.3(TAT):c.555C>G (p.Leu185=) rs1380448846
NM_000353.3(TAT):c.558C>T (p.Tyr186=) rs886052274
NM_000353.3(TAT):c.565T>C (p.Leu189=)
NM_000353.3(TAT):c.567+10T>C
NM_000353.3(TAT):c.567+19T>A rs2145232886
NM_000353.3(TAT):c.567+19T>C
NM_000353.3(TAT):c.567+19_567+20delinsATTTTAATCATTTTTAATCATTTTAATCATTTTAATTTTTTAAATTAATCATTTAATTTAATCATTTAATTAAATTAATCATTTAATCATTTAATCATTTTAATTTCCA rs2145232881
NM_000353.3(TAT):c.567+8A>G rs2145232896
NM_000353.3(TAT):c.568-17C>T
NM_000353.3(TAT):c.568-7T>C
NM_000353.3(TAT):c.57C>T (p.Asp19=) rs777582600
NM_000353.3(TAT):c.594G>C (p.Leu198=) rs2145232672
NM_000353.3(TAT):c.594G>T (p.Leu198=) rs2145232672
NM_000353.3(TAT):c.597A>G (p.Lys199=) rs2145232668
NM_000353.3(TAT):c.601C>T (p.Leu201=)
NM_000353.3(TAT):c.603G>A (p.Leu201=) rs866913048
NM_000353.3(TAT):c.606A>G (p.Glu202=) rs2145232646
NM_000353.3(TAT):c.60G>T (p.Val20=) rs2145236098
NM_000353.3(TAT):c.648T>C (p.Asn216=) rs2145232597
NM_000353.3(TAT):c.663T>C (p.Cys221=) rs2145232573
NM_000353.3(TAT):c.669A>C (p.Ser223=) rs2145232565
NM_000353.3(TAT):c.669A>G (p.Ser223=)
NM_000353.3(TAT):c.66C>T (p.Val22=) rs2145236094
NM_000353.3(TAT):c.687T>C (p.His229=) rs1597054169
NM_000353.3(TAT):c.706+10G>A rs2145232504
NM_000353.3(TAT):c.706+7C>T
NM_000353.3(TAT):c.707-14T>C rs1336452724
NM_000353.3(TAT):c.707-15A>G
NM_000353.3(TAT):c.707-9T>A
NM_000353.3(TAT):c.707-9T>C rs1251000492
NM_000353.3(TAT):c.714A>T (p.Ala238=) rs2145232085
NM_000353.3(TAT):c.715C>A (p.Arg239=) rs779258482
NM_000353.3(TAT):c.723T>C (p.Cys241=)
NM_000353.3(TAT):c.726C>T (p.Val242=) rs2145232065
NM_000353.3(TAT):c.738T>C (p.Ala246=) rs2145232048
NM_000353.3(TAT):c.74G>T (p.Gly25Val)
NM_000353.3(TAT):c.756C>T (p.Asp252=)
NM_000353.3(TAT):c.759+10G>A
NM_000353.3(TAT):c.759+13C>T
NM_000353.3(TAT):c.759+17A>T
NM_000353.3(TAT):c.759+19A>G
NM_000353.3(TAT):c.759+7C>T rs2145232013
NM_000353.3(TAT):c.759+8T>G rs761791218
NM_000353.3(TAT):c.75T>C (p.Gly25=)
NM_000353.3(TAT):c.760-11C>T
NM_000353.3(TAT):c.760-14G>A
NM_000353.3(TAT):c.760-14G>C
NM_000353.3(TAT):c.760-7T>C
NM_000353.3(TAT):c.783A>G (p.Glu261=)
NM_000353.3(TAT):c.795C>T (p.Thr265=) rs2145231319
NM_000353.3(TAT):c.807T>C (p.Asp269=) rs1275948022
NM_000353.3(TAT):c.810C>A (p.Val270=)
NM_000353.3(TAT):c.810C>T (p.Val270=)
NM_000353.3(TAT):c.813C>T (p.Pro271=) rs2145231280
NM_000353.3(TAT):c.849G>A (p.Leu283=)
NM_000353.3(TAT):c.849G>T (p.Leu283=)
NM_000353.3(TAT):c.858C>A (p.Gly286=) rs970559788
NM_000353.3(TAT):c.864G>A (p.Arg288=)
NM_000353.3(TAT):c.882T>C (p.Ile294=)
NM_000353.3(TAT):c.912+12G>T
NM_000353.3(TAT):c.912+12_912+13insGGG
NM_000353.3(TAT):c.912+16A>C
NM_000353.3(TAT):c.912+20G>C
NM_000353.3(TAT):c.913-11del
NM_000353.3(TAT):c.913-15G>A
NM_000353.3(TAT):c.913-15G>C
NM_000353.3(TAT):c.915C>A (p.Ile305=)
NM_000353.3(TAT):c.921T>C (p.Asp307=) rs200734333
NM_000353.3(TAT):c.93G>C (p.Pro31=) rs757389308
NM_000353.3(TAT):c.93G>T (p.Pro31=) rs757389308
NM_000353.3(TAT):c.945C>T (p.Arg315=) rs2145230758
NM_000353.3(TAT):c.949T>C (p.Leu317=)
NM_000353.3(TAT):c.960T>C (p.Cys320=)
NM_000353.3(TAT):c.96A>C (p.Gly32=)
NM_000353.3(TAT):c.979C>T (p.Leu327=)
NM_000353.3(TAT):c.993A>G (p.Leu331=)
NM_000353.3(TAT):c.993A>T (p.Leu331=)
NM_000353.3(TAT):c.9A>C (p.Pro3=)

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