ClinVar Miner

List of variants reported as likely benign for Lysinuric protein intolerance

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_003982.4(SLC7A7):c.*272C>T rs143575981 0.01026
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_003982.4(SLC7A7):c.-18G>A rs72552273 0.00222
NM_003982.4(SLC7A7):c.*141T>G rs545489205 0.00103
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_003982.4(SLC7A7):c.500-20C>G rs375933584 0.00049
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_003982.4(SLC7A7):c.771-12A>G rs554947145 0.00023
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=) rs750881343 0.00022
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln) rs11568423 0.00019
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=) rs146077876 0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921 0.00011
NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=) rs763739193 0.00010
NM_003982.4(SLC7A7):c.625+10A>G rs200420079 0.00010
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=) rs754387668 0.00009
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=) rs201993411 0.00007
NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=) rs373156106 0.00006
NM_003982.4(SLC7A7):c.480G>A (p.Leu160=) rs143867688 0.00005
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=) rs143853134 0.00004
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=) rs750720946 0.00004
NM_003982.4(SLC7A7):c.-42-11C>T rs371332274 0.00003
NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=) rs771254387 0.00003
NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=) rs1182780017 0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=) rs143240690 0.00003
NM_003982.4(SLC7A7):c.894+10T>A rs769176965 0.00003
NM_003982.4(SLC7A7):c.981C>T (p.Ser327=) rs139335972 0.00003
NM_003982.4(SLC7A7):c.99G>A (p.Leu33=) rs757080971 0.00003
NM_003982.4(SLC7A7):c.1014C>G (p.Gly338=) rs1195982035 0.00002
NM_003982.4(SLC7A7):c.1083T>C (p.Ser361=) rs768481415 0.00002
NM_003982.4(SLC7A7):c.1228C>A (p.Arg410=) rs121908678 0.00002
NM_003982.4(SLC7A7):c.1251C>T (p.Ser417=) rs775549397 0.00002
NM_003982.4(SLC7A7):c.1335C>T (p.Ile445=) rs760898785 0.00002
NM_003982.4(SLC7A7):c.1359C>G (p.Gly453=) rs771189806 0.00002
NM_003982.4(SLC7A7):c.1429+8G>A rs201766738 0.00002
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=) rs777682875 0.00002
NM_003982.4(SLC7A7):c.558T>C (p.Ile186=) rs567180118 0.00002
NM_003982.4(SLC7A7):c.597C>T (p.Ile199=) rs756887684 0.00002
NM_003982.4(SLC7A7):c.612T>C (p.Val204=) rs371412051 0.00002
NM_003982.4(SLC7A7):c.666A>C (p.Ser222=) rs140599841 0.00002
NM_003982.4(SLC7A7):c.675G>C (p.Val225=) rs772172822 0.00002
NM_003982.4(SLC7A7):c.681C>T (p.Asp227=) rs774892456 0.00002
NM_003982.4(SLC7A7):c.688C>T (p.Leu230=) rs749678651 0.00002
NM_003982.4(SLC7A7):c.105G>A (p.Lys35=) rs753833842 0.00001
NM_003982.4(SLC7A7):c.1096-7C>T rs772027108 0.00001
NM_003982.4(SLC7A7):c.1096-8G>A rs1378166336 0.00001
NM_003982.4(SLC7A7):c.1117T>C (p.Leu373=) rs769906633 0.00001
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=) rs371346432 0.00001
NM_003982.4(SLC7A7):c.1149C>T (p.Asn383=) rs758810096 0.00001
NM_003982.4(SLC7A7):c.1246-8G>A rs764143566 0.00001
NM_003982.4(SLC7A7):c.1329C>T (p.Ser443=) rs1363447141 0.00001
NM_003982.4(SLC7A7):c.1356A>G (p.Ser452=) rs1346185145 0.00001
NM_003982.4(SLC7A7):c.1429+7C>T rs552331172 0.00001
NM_003982.4(SLC7A7):c.1430-8C>T rs1310878284 0.00001
NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=) rs2038526040 0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=) rs1566438384 0.00001
NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=) rs777446088 0.00001
NM_003982.4(SLC7A7):c.153C>T (p.Ile51=) rs762189517 0.00001
NM_003982.4(SLC7A7):c.291T>C (p.Ile97=) rs1373571295 0.00001
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=) rs375485114 0.00001
NM_003982.4(SLC7A7):c.474C>T (p.Ser158=) rs373825689 0.00001
NM_003982.4(SLC7A7):c.477C>T (p.Arg159=) rs753120791 0.00001
NM_003982.4(SLC7A7):c.478C>T (p.Leu160=) rs376853890 0.00001
NM_003982.4(SLC7A7):c.510C>T (p.Thr170=) rs761380240 0.00001
NM_003982.4(SLC7A7):c.516T>C (p.Ile172=) rs527568845 0.00001
NM_003982.4(SLC7A7):c.583C>T (p.Leu195=) rs775643218 0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=) rs768649205 0.00001
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=) rs747530058 0.00001
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=) rs1437964553 0.00001
NM_003982.4(SLC7A7):c.618T>G (p.Leu206=) rs2038686425 0.00001
NM_003982.4(SLC7A7):c.699C>T (p.Tyr233=) rs767657396 0.00001
NM_003982.4(SLC7A7):c.732C>T (p.Thr244=) rs758362364 0.00001
NM_003982.4(SLC7A7):c.770+7A>G rs774913676 0.00001
NM_003982.4(SLC7A7):c.771-5T>C rs371954584 0.00001
NM_003982.4(SLC7A7):c.792C>G (p.Gly264=) rs770260977 0.00001
NM_003982.4(SLC7A7):c.795C>T (p.Ile265=) rs777140678 0.00001
NM_003982.4(SLC7A7):c.84G>A (p.Pro28=) rs746630301 0.00001
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=) rs1304389598 0.00001
NM_003982.4(SLC7A7):c.894+13dup rs779202322 0.00001
NM_003982.4(SLC7A7):c.966T>C (p.Gly322=) rs780862401 0.00001
NM_003982.4(SLC7A7):c.972C>G (p.Leu324=) rs1239008031 0.00001
NM_003982.4(SLC7A7):c.998+9G>C rs1350841635 0.00001
NM_003982.4(SLC7A7):c.1008T>C (p.Phe336=) rs753178470
NM_003982.4(SLC7A7):c.1029T>C (p.His343=) rs1177228884
NM_003982.4(SLC7A7):c.1032C>T (p.Leu344=) rs2139387119
NM_003982.4(SLC7A7):c.1041C>A (p.Ala347=) rs2139387078
NM_003982.4(SLC7A7):c.1041C>T (p.Ala347=) rs2139387078
NM_003982.4(SLC7A7):c.1047C>T (p.Cys349=)
NM_003982.4(SLC7A7):c.1063C>A (p.Arg355=)
NM_003982.4(SLC7A7):c.1086G>C (p.Leu362=)
NM_003982.4(SLC7A7):c.1089C>G (p.Leu363=)
NM_003982.4(SLC7A7):c.1095+13A>T
NM_003982.4(SLC7A7):c.1095+14A>G rs2139386863
NM_003982.4(SLC7A7):c.1095+15G>C
NM_003982.4(SLC7A7):c.1095+20A>T
NM_003982.4(SLC7A7):c.1095+20del
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1095+7G>C
NM_003982.4(SLC7A7):c.1095+9A>C
NM_003982.4(SLC7A7):c.1096-14G>A
NM_003982.4(SLC7A7):c.1096-17T>C
NM_003982.4(SLC7A7):c.1096-18T>C rs2139384926
NM_003982.4(SLC7A7):c.1096-19C>G rs1325229919
NM_003982.4(SLC7A7):c.1096-6_1096-5dup rs1416844530
NM_003982.4(SLC7A7):c.1096-8G>C rs1378166336
NM_003982.4(SLC7A7):c.1098T>C (p.Gly366=)
NM_003982.4(SLC7A7):c.1107A>G (p.Ala369=)
NM_003982.4(SLC7A7):c.1110G>A (p.Leu370=) rs1267303478
NM_003982.4(SLC7A7):c.1113C>A (p.Ile371=)
NM_003982.4(SLC7A7):c.1116C>T (p.Tyr372=) rs773357652
NM_003982.4(SLC7A7):c.111C>T (p.Ile37=)
NM_003982.4(SLC7A7):c.1134C>A (p.Ile378=)
NM_003982.4(SLC7A7):c.1134C>T (p.Ile378=) rs1594943327
NM_003982.4(SLC7A7):c.1137C>T (p.Phe379=)
NM_003982.4(SLC7A7):c.1140G>A (p.Gln380=)
NM_003982.4(SLC7A7):c.114A>G (p.Ser38=) rs2138663780
NM_003982.4(SLC7A7):c.1155C>T (p.Tyr385=) rs2139384560
NM_003982.4(SLC7A7):c.115C>T (p.Leu39=)
NM_003982.4(SLC7A7):c.117G>A (p.Leu39=) rs2039350455
NM_003982.4(SLC7A7):c.1200G>A (p.Gln400=)
NM_003982.4(SLC7A7):c.1203T>G (p.Leu401=) rs2139384424
NM_003982.4(SLC7A7):c.1206T>C (p.Tyr402=)
NM_003982.4(SLC7A7):c.1207C>T (p.Leu403=) rs2139384413
NM_003982.4(SLC7A7):c.1221G>A (p.Glu407=) rs2139384350
NM_003982.4(SLC7A7):c.1224T>G (p.Pro408=)
NM_003982.4(SLC7A7):c.1239C>G (p.Pro413=) rs2139384237
NM_003982.4(SLC7A7):c.1245+10C>T rs531427504
NM_003982.4(SLC7A7):c.1245+17C>A
NM_003982.4(SLC7A7):c.1245+9A>G
NM_003982.4(SLC7A7):c.1246-13C>T rs2038543431
NM_003982.4(SLC7A7):c.1246-16T>C
NM_003982.4(SLC7A7):c.1246-18T>C
NM_003982.4(SLC7A7):c.1246-19_1246-18del
NM_003982.4(SLC7A7):c.1246-6C>T rs1343994057
NM_003982.4(SLC7A7):c.1246-7C>T rs370138050
NM_003982.4(SLC7A7):c.1248C>G (p.Leu416=) rs1266932567
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=) rs1043886041
NM_003982.4(SLC7A7):c.1266T>C (p.Ile422=) rs1594942768
NM_003982.4(SLC7A7):c.1269C>T (p.Val423=) rs2038541659
NM_003982.4(SLC7A7):c.1275C>T (p.Cys425=) rs2139383501
NM_003982.4(SLC7A7):c.1287C>A (p.Ile429=) rs2139383446
NM_003982.4(SLC7A7):c.1290C>T (p.Phe430=) rs368164901
NM_003982.4(SLC7A7):c.129G>A (p.Val43=) rs2138663660
NM_003982.4(SLC7A7):c.1305A>G (p.Pro435=) rs1594942680
NM_003982.4(SLC7A7):c.1311C>T (p.Tyr437=)
NM_003982.4(SLC7A7):c.1320T>C (p.Thr440=) rs2139383353
NM_003982.4(SLC7A7):c.1323C>T (p.Ile441=)
NM_003982.4(SLC7A7):c.1332C>T (p.Leu444=)
NM_003982.4(SLC7A7):c.1341T>C (p.Ile447=)
NM_003982.4(SLC7A7):c.1344C>T (p.Ala448=) rs2139383219
NM_003982.4(SLC7A7):c.1350C>A (p.Ala450=)
NM_003982.4(SLC7A7):c.1350C>T (p.Ala450=) rs2139383184
NM_003982.4(SLC7A7):c.1353C>G (p.Leu451=)
NM_003982.4(SLC7A7):c.1360C>T (p.Leu454=) rs1594942552
NM_003982.4(SLC7A7):c.1362G>A (p.Leu454=)
NM_003982.4(SLC7A7):c.1374C>T (p.Phe458=) rs1594942519
NM_003982.4(SLC7A7):c.1380C>T (p.Ile460=) rs139415285
NM_003982.4(SLC7A7):c.1389G>A (p.Val463=)
NM_003982.4(SLC7A7):c.1392A>C (p.Pro464=)
NM_003982.4(SLC7A7):c.1392A>G (p.Pro464=)
NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)
NM_003982.4(SLC7A7):c.141G>C (p.Val47=)
NM_003982.4(SLC7A7):c.1429+10G>A
NM_003982.4(SLC7A7):c.1429+11C>T
NM_003982.4(SLC7A7):c.1429+12A>C
NM_003982.4(SLC7A7):c.1429+15C>A
NM_003982.4(SLC7A7):c.1429+15_1429+17del
NM_003982.4(SLC7A7):c.1429+18A>C rs2139382797
NM_003982.4(SLC7A7):c.1429+19A>G
NM_003982.4(SLC7A7):c.1429+8G>C rs201766738
NM_003982.4(SLC7A7):c.1429+9T>C rs2139382831
NM_003982.4(SLC7A7):c.1430-14dup rs775214548
NM_003982.4(SLC7A7):c.1430-18T>C rs745832658
NM_003982.4(SLC7A7):c.1430-8C>A
NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)
NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=) rs760963199
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=) rs1298784269
NM_003982.4(SLC7A7):c.1458G>A (p.Leu486=)
NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=) rs1343227478
NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)
NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=) rs2139382160
NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=) rs1188919066
NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=) rs2139381985
NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=) rs138506427
NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)
NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=) rs2139381941
NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)
NM_003982.4(SLC7A7):c.165C>T (p.Ile55=) rs2138663461
NM_003982.4(SLC7A7):c.168T>C (p.Phe56=)
NM_003982.4(SLC7A7):c.171T>G (p.Val57=)
NM_003982.4(SLC7A7):c.18G>A (p.Glu6=)
NM_003982.4(SLC7A7):c.192A>C (p.Ile64=)
NM_003982.4(SLC7A7):c.201C>G (p.Ala67=) rs1253918930
NM_003982.4(SLC7A7):c.213C>G (p.Leu71=)
NM_003982.4(SLC7A7):c.216T>C (p.Ser72=)
NM_003982.4(SLC7A7):c.217C>T (p.Leu73=) rs2138663228
NM_003982.4(SLC7A7):c.237G>A (p.Gly79=) rs1271709166
NM_003982.4(SLC7A7):c.249C>G (p.Ser83=)
NM_003982.4(SLC7A7):c.267T>C (p.Cys89=) rs1160975991
NM_003982.4(SLC7A7):c.27G>A (p.Val9=)
NM_003982.4(SLC7A7):c.285C>T (p.Thr95=)
NM_003982.4(SLC7A7):c.297A>G (p.Lys99=) rs761270703
NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)
NM_003982.4(SLC7A7):c.321C>A (p.Ile107=) rs1267133279
NM_003982.4(SLC7A7):c.321C>T (p.Ile107=) rs1267133279
NM_003982.4(SLC7A7):c.330C>T (p.Ala110=)
NM_003982.4(SLC7A7):c.345T>C (p.Leu115=) rs2039343008
NM_003982.4(SLC7A7):c.366C>T (p.Thr122=)
NM_003982.4(SLC7A7):c.369C>G (p.Ser123=)
NM_003982.4(SLC7A7):c.369C>T (p.Ser123=)
NM_003982.4(SLC7A7):c.375C>G (p.Leu125=) rs199724860
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=) rs1473768240
NM_003982.4(SLC7A7):c.390C>T (p.Thr130=) rs1473768240
NM_003982.4(SLC7A7):c.399C>A (p.Ala133=) rs2138662176
NM_003982.4(SLC7A7):c.39T>C (p.Pro13=) rs200484429
NM_003982.4(SLC7A7):c.402C>T (p.Ile134=) rs375801568
NM_003982.4(SLC7A7):c.411C>A (p.Ile137=)
NM_003982.4(SLC7A7):c.420C>T (p.Ala140=) rs2138662044
NM_003982.4(SLC7A7):c.423C>T (p.Asn141=)
NM_003982.4(SLC7A7):c.426C>T (p.Tyr142=) rs1386037910
NM_003982.4(SLC7A7):c.42G>A (p.Glu14=)
NM_003982.4(SLC7A7):c.435G>A (p.Gln145=)
NM_003982.4(SLC7A7):c.447G>C (p.Pro149=)
NM_003982.4(SLC7A7):c.447G>T (p.Pro149=)
NM_003982.4(SLC7A7):c.459C>T (p.Ala153=)
NM_003982.4(SLC7A7):c.45G>T (p.Val15=)
NM_003982.4(SLC7A7):c.468T>C (p.Ala156=) rs1225448681
NM_003982.4(SLC7A7):c.471C>T (p.Ala157=) rs2138661685
NM_003982.4(SLC7A7):c.481C>T (p.Leu161=)
NM_003982.4(SLC7A7):c.483G>A (p.Leu161=)
NM_003982.4(SLC7A7):c.486T>G (p.Ala162=) rs1594985030
NM_003982.4(SLC7A7):c.499+9G>C rs893853391
NM_003982.4(SLC7A7):c.499+9G>T rs893853391
NM_003982.4(SLC7A7):c.500-14T>C
NM_003982.4(SLC7A7):c.500-17T>C
NM_003982.4(SLC7A7):c.500-18G>C
NM_003982.4(SLC7A7):c.500-20C>T
NM_003982.4(SLC7A7):c.504C>G (p.Leu168=)
NM_003982.4(SLC7A7):c.519C>T (p.Asn173=) rs2038690400
NM_003982.4(SLC7A7):c.522T>C (p.Cys174=)
NM_003982.4(SLC7A7):c.525C>T (p.Ala175=)
NM_003982.4(SLC7A7):c.528T>C (p.Tyr176=) rs2139397490
NM_003982.4(SLC7A7):c.531C>T (p.Val177=)
NM_003982.4(SLC7A7):c.543C>A (p.Thr181=)
NM_003982.4(SLC7A7):c.543C>T (p.Thr181=)
NM_003982.4(SLC7A7):c.54C>T (p.Ser18=) rs2138664113
NM_003982.4(SLC7A7):c.555T>C (p.Asp185=) rs2139397395
NM_003982.4(SLC7A7):c.564C>T (p.Thr188=) rs2139397358
NM_003982.4(SLC7A7):c.577T>C (p.Leu193=) rs770073141
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.603A>G (p.Ala201=) rs2139397186
NM_003982.4(SLC7A7):c.613A>C (p.Arg205=)
NM_003982.4(SLC7A7):c.615A>G (p.Arg205=)
NM_003982.4(SLC7A7):c.625+12T>C
NM_003982.4(SLC7A7):c.625+17G>A
NM_003982.4(SLC7A7):c.625+18T>C rs974421997
NM_003982.4(SLC7A7):c.625+7A>G
NM_003982.4(SLC7A7):c.625+8A>G
NM_003982.4(SLC7A7):c.625+9T>C
NM_003982.4(SLC7A7):c.625+9del
NM_003982.4(SLC7A7):c.626-13T>A
NM_003982.4(SLC7A7):c.626-14T>G rs2139395142
NM_003982.4(SLC7A7):c.626-18A>C
NM_003982.4(SLC7A7):c.626-18A>G
NM_003982.4(SLC7A7):c.626-8G>T
NM_003982.4(SLC7A7):c.627A>G (p.Gly209=)
NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)
NM_003982.4(SLC7A7):c.642T>C (p.Phe214=) rs2139395072
NM_003982.4(SLC7A7):c.645G>A (p.Glu215=) rs2139395059
NM_003982.4(SLC7A7):c.66T>C (p.Asp22=) rs2138664033
NM_003982.4(SLC7A7):c.675G>A (p.Val225=)
NM_003982.4(SLC7A7):c.708G>A (p.Leu236=)
NM_003982.4(SLC7A7):c.708G>T (p.Leu236=) rs1566442536
NM_003982.4(SLC7A7):c.729C>T (p.Asp243=) rs2139394830
NM_003982.4(SLC7A7):c.735C>T (p.Leu245=) rs1594948146
NM_003982.4(SLC7A7):c.756C>T (p.Ile252=)
NM_003982.4(SLC7A7):c.762T>C (p.Asn254=) rs2139394710
NM_003982.4(SLC7A7):c.770+10G>A
NM_003982.4(SLC7A7):c.770+16C>A
NM_003982.4(SLC7A7):c.770+16C>T
NM_003982.4(SLC7A7):c.770+19_770+26del
NM_003982.4(SLC7A7):c.770+19dup
NM_003982.4(SLC7A7):c.771-10T>C
NM_003982.4(SLC7A7):c.771-11T>A
NM_003982.4(SLC7A7):c.771-11T>C
NM_003982.4(SLC7A7):c.771-15T>G
NM_003982.4(SLC7A7):c.775C>T (p.Leu259=)
NM_003982.4(SLC7A7):c.777G>T (p.Leu259=)
NM_003982.4(SLC7A7):c.783C>T (p.Leu261=)
NM_003982.4(SLC7A7):c.798C>G (p.Ser266=) rs2139389185
NM_003982.4(SLC7A7):c.804C>T (p.Pro268=)
NM_003982.4(SLC7A7):c.807T>C (p.Ile269=)
NM_003982.4(SLC7A7):c.813C>A (p.Thr271=) rs2139389124
NM_003982.4(SLC7A7):c.81G>A (p.Gly27=)
NM_003982.4(SLC7A7):c.822T>C (p.Tyr274=)
NM_003982.4(SLC7A7):c.825C>T (p.Ile275=) rs2139389052
NM_003982.4(SLC7A7):c.828G>A (p.Leu276=)
NM_003982.4(SLC7A7):c.831C>G (p.Thr277=)
NM_003982.4(SLC7A7):c.834T>C (p.Asn278=)
NM_003982.4(SLC7A7):c.837G>A (p.Val279=)
NM_003982.4(SLC7A7):c.846T>C (p.Tyr282=) rs2038603917
NM_003982.4(SLC7A7):c.852G>A (p.Val284=) rs1351778419
NM_003982.4(SLC7A7):c.888T>C (p.Val296=)
NM_003982.4(SLC7A7):c.891T>C (p.Ala297=)
NM_003982.4(SLC7A7):c.894+15C>T
NM_003982.4(SLC7A7):c.894+19C>T
NM_003982.4(SLC7A7):c.894+8A>G
NM_003982.4(SLC7A7):c.895-14T>C
NM_003982.4(SLC7A7):c.895-15A>G
NM_003982.4(SLC7A7):c.895-20_895-19del
NM_003982.4(SLC7A7):c.895-6C>T
NM_003982.4(SLC7A7):c.895-7C>G
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_003982.4(SLC7A7):c.936T>A (p.Ile312=)
NM_003982.4(SLC7A7):c.940C>T (p.Leu314=)
NM_003982.4(SLC7A7):c.963T>C (p.Phe321=)
NM_003982.4(SLC7A7):c.966T>G (p.Gly322=) rs780862401
NM_003982.4(SLC7A7):c.975T>C (p.Asn325=) rs2038593013
NM_003982.4(SLC7A7):c.984T>A (p.Ile328=)
NM_003982.4(SLC7A7):c.993T>C (p.Ala331=)
NM_003982.4(SLC7A7):c.998+10G>A
NM_003982.4(SLC7A7):c.998+10G>T
NM_003982.4(SLC7A7):c.998+11C>T
NM_003982.4(SLC7A7):c.998+13A>C
NM_003982.4(SLC7A7):c.998+13A>T
NM_003982.4(SLC7A7):c.998+15T>A
NM_003982.4(SLC7A7):c.998+16T>C
NM_003982.4(SLC7A7):c.998+19G>C
NM_003982.4(SLC7A7):c.998+7G>C
NM_003982.4(SLC7A7):c.998+8T>C
NM_003982.4(SLC7A7):c.998+9G>A rs1350841635
NM_003982.4(SLC7A7):c.999-10C>T
NM_003982.4(SLC7A7):c.999-14C>G
NM_003982.4(SLC7A7):c.999-16A>G rs1594944509
NM_003982.4(SLC7A7):c.999-19C>G
NM_003982.4(SLC7A7):c.999-19C>T
NM_003982.4(SLC7A7):c.999-4A>G
NM_003982.4(SLC7A7):c.999-5C>T rs2139387275

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