ClinVar Miner

List of variants studied for fucosidosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile) rs665 0.00227
NM_000147.5(FUCA1):c.389+14C>T rs553138426 0.00148
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 0.00116
NM_000147.5(FUCA1):c.969+5G>C rs115939152 0.00101
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000147.5(FUCA1):c.969+18T>A rs140246387 0.00041
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575 0.00037
NM_000147.5(FUCA1):c.502T>C (p.Leu168=) rs147389792 0.00034
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu) rs138378067 0.00022
NM_000147.5(FUCA1):c.339C>T (p.Arg113=) rs558060888 0.00021
NM_000147.5(FUCA1):c.525-8T>G rs41268125 0.00021
NM_000147.5(FUCA1):c.639A>G (p.Pro213=) rs200409671 0.00015
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) rs145153173 0.00014
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys) rs201209052 0.00012
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=) rs771696380 0.00011
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=) rs147866670 0.00011
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys) rs530854024 0.00010
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00010
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu) rs747889861 0.00009
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=) rs777813005 0.00008
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp) rs375270869 0.00008
NM_000147.5(FUCA1):c.970-20A>G rs371684711 0.00008
NM_000147.5(FUCA1):c.1A>G (p.Met1Val) rs558338123 0.00007
NM_000147.5(FUCA1):c.1179G>A (p.Ser393=) rs370306169 0.00006
NM_000147.5(FUCA1):c.861C>T (p.Ser287=) rs200962094 0.00006
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 0.00006
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu) rs149168482 0.00005
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser) rs569701574 0.00005
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000147.5(FUCA1):c.1160+9T>C rs778966131 0.00004
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=) rs372223382 0.00004
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr) rs377360830 0.00004
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu) rs1204848910 0.00004
NM_000147.5(FUCA1):c.39C>T (p.Pro13=) rs1429674319 0.00004
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp) rs768069468 0.00004
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn) rs781345107 0.00004
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val) rs766121368 0.00003
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe) rs754110650 0.00003
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg) rs551560114 0.00003
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00002
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=) rs750761317 0.00002
NM_000147.5(FUCA1):c.438G>A (p.Pro146=) rs766878135 0.00002
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys) rs149540896 0.00002
NM_000147.5(FUCA1):c.662+8A>G rs371032301 0.00002
NM_000147.5(FUCA1):c.6G>A (p.Arg2=) rs1431712214 0.00002
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala) rs769788583 0.00001
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg) rs749269943 0.00001
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp) rs548735209 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=) rs897246170 0.00001
NM_000147.5(FUCA1):c.12G>C (p.Pro4=) rs775815377 0.00001
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=) rs924511473 0.00001
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val) rs774128532 0.00001
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys) rs367641377 0.00001
NM_000147.5(FUCA1):c.144G>A (p.Pro48=) rs1383407330 0.00001
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser) rs763135982 0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.294G>C (p.Pro98=) rs773469453 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu) rs777581303 0.00001
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu) rs980153372 0.00001
NM_000147.5(FUCA1):c.390-20T>C rs1460987220 0.00001
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu) rs747625633 0.00001
NM_000147.5(FUCA1):c.465C>T (p.Ser155=) rs563341708 0.00001
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) rs372045495 0.00001
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln) rs148194937 0.00001
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn) rs1352828947 0.00001
NM_000147.5(FUCA1):c.525-3A>G rs766757100 0.00001
NM_000147.5(FUCA1):c.533G>A (p.Arg178His) rs145537354 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.658A>C (p.Asn220His) rs755082816 0.00001
NM_000147.5(FUCA1):c.662+9C>T rs1009553855 0.00001
NM_000147.5(FUCA1):c.663-11A>G rs759359539 0.00001
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg) rs770733586 0.00001
NM_000147.5(FUCA1):c.759C>T (p.Ser253=) rs757698879 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 0.00001
NM_000147.5(FUCA1):c.903G>A (p.Lys301=) rs1639349703 0.00001
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys) rs773719849 0.00001
NM_000147.5(FUCA1):c.927C>T (p.Asp309=) rs1639347894 0.00001
NM_000147.5(FUCA1):c.933A>C (p.Ala311=) rs1035389960 0.00001
NC_000001.10:g.(?_24172205)_(24172683_?)dup
NC_000001.10:g.(?_24172205)_(24194776_?)del
NC_000001.10:g.(?_24172205)_(24194776_?)dup
NC_000001.10:g.(?_24175119)_(24175349_?)del
NC_000001.10:g.(?_24180830)_(24189781_?)del
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000001.10:g.(?_24191961)_(24194776_?)del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=) rs2148438798
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=)
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)
NM_000147.5(FUCA1):c.1158A>G (p.Val386=)
NM_000147.5(FUCA1):c.1160+10_1160+14del
NM_000147.5(FUCA1):c.1160+16T>C rs2148438645
NM_000147.5(FUCA1):c.1160+17G>C
NM_000147.5(FUCA1):c.1160+20G>A
NM_000147.5(FUCA1):c.1161-17T>C
NM_000147.5(FUCA1):c.1161-19G>A
NM_000147.5(FUCA1):c.1161-21GT[3]
NM_000147.5(FUCA1):c.1161-5C>T
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg) rs1639135764
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
NM_000147.5(FUCA1):c.1260+14G>A rs777928698
NM_000147.5(FUCA1):c.1260+14G>C
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA rs571738393
NM_000147.5(FUCA1):c.1260+2T>A
NM_000147.5(FUCA1):c.1260+8G>A
NM_000147.5(FUCA1):c.1261-14T>A
NM_000147.5(FUCA1):c.1261-18C>T
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)
NM_000147.5(FUCA1):c.126G>A (p.Pro42=)
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=) rs2148436980
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter) rs1639127458
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His) rs1639125891
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met) rs770042348
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=) rs2148436874
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=) rs2148436869
NM_000147.5(FUCA1):c.153C>G (p.Ala51=)
NM_000147.5(FUCA1):c.15G>A (p.Gly5=)
NM_000147.5(FUCA1):c.15G>T (p.Gly5=)
NM_000147.5(FUCA1):c.162C>T (p.Asp54=)
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
NM_000147.5(FUCA1):c.177G>C (p.Gly59=)
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser) rs2148450635
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr) rs2148450632
NM_000147.5(FUCA1):c.189C>T (p.His63=)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val) rs1224396509
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
NM_000147.5(FUCA1):c.249C>T (p.Gly83=)
NM_000147.5(FUCA1):c.255G>A (p.Gly85=)
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
NM_000147.5(FUCA1):c.27G>C (p.Arg9=)
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
NM_000147.5(FUCA1):c.297C>T (p.Pro99=)
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.30G>A (p.Pro10=)
NM_000147.5(FUCA1):c.312C>G (p.Ala104=)
NM_000147.5(FUCA1):c.315C>T (p.Asp105=)
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser) rs1455700210
NM_000147.5(FUCA1):c.324G>T (p.Pro108=)
NM_000147.5(FUCA1):c.33G>T (p.Ala11=)
NM_000147.5(FUCA1):c.345C>T (p.Phe115=)
NM_000147.5(FUCA1):c.351G>T (p.Pro117=)
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys) rs758745364
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val) rs780117609
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
NM_000147.5(FUCA1):c.389+13C>A
NM_000147.5(FUCA1):c.389+14C>G
NM_000147.5(FUCA1):c.389+15G>C rs1395597191
NM_000147.5(FUCA1):c.389+18G>A
NM_000147.5(FUCA1):c.389+18del
NM_000147.5(FUCA1):c.389+20G>A
NM_000147.5(FUCA1):c.389+4A>C
NM_000147.5(FUCA1):c.389+6T>C rs577790391
NM_000147.5(FUCA1):c.390-11G>C
NM_000147.5(FUCA1):c.390-6C>T
NM_000147.5(FUCA1):c.390-9T>C
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)
NM_000147.5(FUCA1):c.402G>A (p.Leu134=)
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg) rs779017131
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)
NM_000147.5(FUCA1):c.417C>T (p.His139=)
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)
NM_000147.5(FUCA1):c.423C>T (p.Gly141=)
NM_000147.5(FUCA1):c.42G>A (p.Ala14=)
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
NM_000147.5(FUCA1):c.45G>A (p.Leu15=)
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
NM_000147.5(FUCA1):c.462C>T (p.Asn154=)
NM_000147.5(FUCA1):c.46T>C (p.Leu16=)
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
NM_000147.5(FUCA1):c.471C>T (p.Asp157=)
NM_000147.5(FUCA1):c.474G>A (p.Val158=)
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup) rs756742678
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly) rs2070955
NM_000147.5(FUCA1):c.516C>G (p.Leu172=)
NM_000147.5(FUCA1):c.519G>A (p.Arg173=)
NM_000147.5(FUCA1):c.51G>A (p.Leu17=)
NM_000147.5(FUCA1):c.524+12G>C
NM_000147.5(FUCA1):c.524+14G>A
NM_000147.5(FUCA1):c.524+17G>T
NM_000147.5(FUCA1):c.524+18G>T rs2148449061
NM_000147.5(FUCA1):c.524+4_524+5del rs1158652644
NM_000147.5(FUCA1):c.524+7G>A
NM_000147.5(FUCA1):c.524+9C>T
NM_000147.5(FUCA1):c.525-13T>C
NM_000147.5(FUCA1):c.525-15_525-14del
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3] rs864309552
NM_000147.5(FUCA1):c.525-20G>A
NM_000147.5(FUCA1):c.525-7G>C
NM_000147.5(FUCA1):c.525-9_525-5del rs759886522
NM_000147.5(FUCA1):c.541C>T (p.Leu181=) rs760734726
NM_000147.5(FUCA1):c.543A>G (p.Leu181=)
NM_000147.5(FUCA1):c.54G>A (p.Leu18=)
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
NM_000147.5(FUCA1):c.573A>G (p.Pro191=)
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val) rs2148447710
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile) rs1639545879
NM_000147.5(FUCA1):c.585T>G (p.Leu195=)
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
NM_000147.5(FUCA1):c.609A>G (p.Thr203=)
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
NM_000147.5(FUCA1):c.614A>G (p.His205Arg) rs2148447684
NM_000147.5(FUCA1):c.654T>C (p.Leu218=)
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
NM_000147.5(FUCA1):c.657T>C (p.Val219=)
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.662+10T>A
NM_000147.5(FUCA1):c.662+12A>G
NM_000147.5(FUCA1):c.662+3A>G
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.663-11_663-10del
NM_000147.5(FUCA1):c.663-3C>T
NM_000147.5(FUCA1):c.66C>T (p.Leu22=)
NM_000147.5(FUCA1):c.671del (p.Pro224fs) rs2148446020
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.6G>C (p.Arg2=)
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
NM_000147.5(FUCA1):c.729A>G (p.Thr243=)
NM_000147.5(FUCA1):c.72G>A (p.Ala24=)
NM_000147.5(FUCA1):c.738T>G (p.Leu246=)
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly) rs779515820
NM_000147.5(FUCA1):c.768+19T>A
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.768+8A>G rs752291671
NM_000147.5(FUCA1):c.769-14C>A
NM_000147.5(FUCA1):c.769-18T>C
NM_000147.5(FUCA1):c.769-2A>C
NM_000147.5(FUCA1):c.769-4T>C
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
NM_000147.5(FUCA1):c.777G>A (p.Val259=)
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
NM_000147.5(FUCA1):c.783A>G (p.Val261=)
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr) rs61996282
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.81G>C (p.Ser27=)
NM_000147.5(FUCA1):c.843T>C (p.Asp281=)
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu) rs754452752
NM_000147.5(FUCA1):c.84G>T (p.Val28=)
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu) rs1639666097
NM_000147.5(FUCA1):c.871C>G (p.His291Asp) rs2148442832
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg) rs2148442806
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe) rs749790121
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr) rs774539460
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
NM_000147.5(FUCA1):c.933A>G (p.Ala311=)
NM_000147.5(FUCA1):c.93C>T (p.Ala31=)
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000147.5(FUCA1):c.954A>G (p.Glu318=)
NM_000147.5(FUCA1):c.969+11C>A rs2148442736
NM_000147.5(FUCA1):c.969+15G>A
NM_000147.5(FUCA1):c.969+1G>T
NM_000147.5(FUCA1):c.969+5G>A
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
NM_000147.5(FUCA1):c.970-12T>C
NM_000147.5(FUCA1):c.970-17G>A
NM_000147.5(FUCA1):c.970-18T>C
NM_000147.5(FUCA1):c.970-6C>T
NM_000147.5(FUCA1):c.970-7T>C
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)
NM_000147.5(FUCA1):c.9T>C (p.Ala3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.