ClinVar Miner

List of variants studied for thrombocytopenia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 574
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_000377.3(WAS):c.206G>C (p.Cys69Ser) rs374283590 0.00011
NM_000377.3(WAS):c.266G>A (p.Gly89Asp) rs139857045 0.00011
NM_000377.3(WAS):c.593C>T (p.Ala198Val) rs200261212 0.00011
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000377.3(WAS):c.351C>T (p.Phe117=) rs143299151 0.00009
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.1339-3C>T rs373491815 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.361-17C>T rs782768055 0.00005
NM_000377.3(WAS):c.490A>C (p.Thr164Pro) rs781918613 0.00005
NM_000377.3(WAS):c.69C>T (p.Pro23=) rs1557006235 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.594G>A (p.Ala198=) rs376545922 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) rs1307143057 0.00002
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.1218C>T (p.Ser406=) rs370053372 0.00002
NM_000377.3(WAS):c.1245C>T (p.Leu415=) rs1557007301 0.00002
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491 0.00002
NM_000377.3(WAS):c.1266C>T (p.Ala422=) rs782041815 0.00002
NM_000377.3(WAS):c.1476C>T (p.Gly492=) rs1161895393 0.00002
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) rs781790075 0.00002
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000377.3(WAS):c.274-4C>T rs782527416 0.00002
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.575C>T (p.Pro192Leu) rs782745511 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) rs1557007283 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1255C>A (p.Leu419Met) rs1422863482 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.1303T>C (p.Leu435=) rs1557007338 0.00001
NM_000377.3(WAS):c.1338+8C>T rs782158640 0.00001
NM_000377.3(WAS):c.1339-4G>A rs782436940 0.00001
NM_000377.3(WAS):c.1407C>T (p.Ala469=) rs782264561 0.00001
NM_000377.3(WAS):c.1416C>T (p.His472=) rs377442612 0.00001
NM_000377.3(WAS):c.1425G>A (p.Gln475=) rs1351097717 0.00001
NM_000377.3(WAS):c.1479T>C (p.Asp493=) rs782452466 0.00001
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000377.3(WAS):c.360+8A>G rs1557006508 0.00001
NM_000377.3(WAS):c.411C>T (p.Phe137=) rs1474269671 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.505+3_505+7dup rs1557006628 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.849C>T (p.Asp283=) rs1557007034 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.954G>A (p.Pro318=) rs1366022019 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.985C>G (p.Pro329Ala) rs1557007136 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 0.00001
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48368209)_(51241672_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1041G>A (p.Leu347=)
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)
NM_000377.3(WAS):c.1061C>A (p.Pro354Gln)
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
NM_000377.3(WAS):c.1075C>A (p.Pro359Thr)
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.1082C>A (p.Pro361His)
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
NM_000377.3(WAS):c.1086A>G (p.Pro362=) rs1304836055
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1091G>A (p.Arg364Gln)
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
NM_000377.3(WAS):c.1106C>T (p.Pro369Leu)
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1189C>G (p.Pro397Ala)
NM_000377.3(WAS):c.1190C>T (p.Pro397Leu)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
NM_000377.3(WAS):c.1219G>C (p.Gly407Arg)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.122G>A (p.Arg41Gln)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
NM_000377.3(WAS):c.1260G>A (p.Val420=)
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1285G>C (p.Gly429Arg)
NM_000377.3(WAS):c.1289del (p.Gly430fs)
NM_000377.3(WAS):c.1289dup (p.Arg431fs)
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.132+14C>G
NM_000377.3(WAS):c.132+6C>T
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
NM_000377.3(WAS):c.133-15G>A
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.133-19C>T
NM_000377.3(WAS):c.133-5C>T
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
NM_000377.3(WAS):c.1338+13A>G
NM_000377.3(WAS):c.1338+13A>T
NM_000377.3(WAS):c.1338+9A>C
NM_000377.3(WAS):c.1339-16T>C
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.1339-6C>G rs1207805593
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.1343C>T (p.Pro448Leu)
NM_000377.3(WAS):c.1347G>A (p.Gly449=)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1356G>T (p.Glu452Asp)
NM_000377.3(WAS):c.135G>A (p.Thr45=)
NM_000377.3(WAS):c.135G>T (p.Thr45=)
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
NM_000377.3(WAS):c.136C>T (p.Leu46=)
NM_000377.3(WAS):c.1377A>G (p.Pro459=)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.1386C>G (p.Ser462Arg)
NM_000377.3(WAS):c.138G>A (p.Leu46=)
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.1423C>T (p.Gln475Ter) rs1602180058
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
NM_000377.3(WAS):c.1442T>A (p.Ile481Asn) rs132630276
NM_000377.3(WAS):c.1453+12C>T
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.1453+20G>C
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1453+9A>C
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.1454-11T>C
NM_000377.3(WAS):c.1454-12C>A
NM_000377.3(WAS):c.1454-12C>T
NM_000377.3(WAS):c.1454-5T>C
NM_000377.3(WAS):c.1454-6C>T
NM_000377.3(WAS):c.1454-7C>T
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.1490A>G (p.Asp497Gly)
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.150T>A (p.Val50=)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.159G>A (p.Leu53=)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.168G>A (p.Ala56=)
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.173C>G (p.Pro58Arg) rs132630275
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.189C>T (p.His63=)
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.204T>C (p.His68=)
NM_000377.3(WAS):c.209G>T (p.Gly70Val)
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.222C>T (p.Phe74=)
NM_000377.3(WAS):c.225G>A (p.Val75=)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.243G>A (p.Lys81=)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.255C>T (p.Ile85=)
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11C>A
NM_000377.3(WAS):c.273+11C>G
NM_000377.3(WAS):c.273+11C>T
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.273+14C>G
NM_000377.3(WAS):c.273+17C>A
NM_000377.3(WAS):c.273+17C>T
NM_000377.3(WAS):c.273+19A>G
NM_000377.3(WAS):c.273+1G>A rs1064794076
NM_000377.3(WAS):c.273+6C>T
NM_000377.3(WAS):c.273+8_273+9insA
NM_000377.3(WAS):c.273+9C>T
NM_000377.3(WAS):c.273+9_273+11dup
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-11C>T
NM_000377.3(WAS):c.274-20C>A
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.274G>A (p.Ala92Thr)
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.283C>T (p.Leu95=)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.303G>A (p.Leu101=)
NM_000377.3(WAS):c.30C>A (p.Pro10=)
NM_000377.3(WAS):c.30C>G (p.Pro10=)
NM_000377.3(WAS):c.30C>T (p.Pro10=)
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.335C>A (p.Pro112His)
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.348C>G (p.Thr116=)
NM_000377.3(WAS):c.352G>A (p.Ala118Thr)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+13C>T
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.361-10G>A
NM_000377.3(WAS):c.361-12A>G rs781885441
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.361-8A>T
NM_000377.3(WAS):c.369A>G (p.Gln123=)
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.372G>A (p.Ala124=)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
NM_000377.3(WAS):c.396C>T (p.Asp132=)
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.405G>A (p.Gln135=)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.413G>C (p.Arg138Pro) rs139265251
NM_000377.3(WAS):c.420C>A (p.Leu140=)
NM_000377.3(WAS):c.421G>A (p.Val141Met)
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.436C>A (p.Gln146Lys)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.438A>G (p.Gln146=)
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
NM_000377.3(WAS):c.456A>C (p.Gln152His)
NM_000377.3(WAS):c.463+10C>T
NM_000377.3(WAS):c.463+12A>G
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.463+5G>A
NM_000377.3(WAS):c.464-11T>G
NM_000377.3(WAS):c.464-13C>T
NM_000377.3(WAS):c.464-9T>C
NM_000377.3(WAS):c.466_469del
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.482dup (p.Pro162fs)
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+10C>A
NM_000377.3(WAS):c.505+20T>C
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.506-10A>G
NM_000377.3(WAS):c.506-15A>G
NM_000377.3(WAS):c.506-1G>C
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.519G>T (p.Gly173=)
NM_000377.3(WAS):c.51G>A (p.Ala17=)
NM_000377.3(WAS):c.51G>C (p.Ala17=)
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.540T>C (p.His180=)
NM_000377.3(WAS):c.541C>T (p.Pro181Ser)
NM_000377.3(WAS):c.542C>T (p.Pro181Leu)
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.559+14_559+32del rs782477646
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.559+6_559+13dup
NM_000377.3(WAS):c.559+8C>G rs1602177756
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.560-6C>T
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.570G>A (p.Val190=)
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.579C>T (p.Leu193=)
NM_000377.3(WAS):c.585G>T (p.Leu195=)
NM_000377.3(WAS):c.588G>C (p.Gly196=)
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.593C>G (p.Ala198Gly)
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.603C>T (p.Asp201=) rs2062421636
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.610A>T (p.Asn204Tyr)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.624G>A (p.Thr208=) rs2147264874
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
NM_000377.3(WAS):c.633A>G (p.Arg211=) rs2147264887
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.642G>C (p.Gly214=)
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.663C>T (p.Ser221=)
NM_000377.3(WAS):c.669T>G (p.Ala223=) rs928562174
NM_000377.3(WAS):c.675G>A (p.Lys225=)
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.690G>A (p.Lys230=)
NM_000377.3(WAS):c.691A>T (p.Lys231Ter)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
NM_000377.3(WAS):c.707C>G (p.Ala236Gly) rs132630270
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.713T>C (p.Ile238Thr) rs2062422194
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.735-10C>A
NM_000377.3(WAS):c.735-16_735-15insGT
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.735-5C>T
NM_000377.3(WAS):c.744C>T (p.Ser248=)
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.747C>T (p.His249=)
NM_000377.3(WAS):c.750G>A (p.Val250=)
NM_000377.3(WAS):c.753del (p.Trp252fs)
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.75C>T (p.Thr25=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.768T>C (p.Asn256=) rs2147265705
NM_000377.3(WAS):c.777+11T>A
NM_000377.3(WAS):c.777+12del
NM_000377.3(WAS):c.777+17T>C
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+5G>A
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.778-11C>T
NM_000377.3(WAS):c.778-14T>C
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.778-8C>T
NM_000377.3(WAS):c.780G>A (p.Val260=) rs2147265866
NM_000377.3(WAS):c.789C>T (p.Leu263=)
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.795A>C (p.Pro265=)
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.810G>T (p.Leu270=)
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.819G>A (p.Arg273=)
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.831C>T (p.Ser277=)
NM_000377.3(WAS):c.834G>A (p.Glu278=)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.846C>T (p.Thr282=)
NM_000377.3(WAS):c.852C>G (p.Ala284=)
NM_000377.3(WAS):c.858C>T (p.Thr286=) rs2147266003
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.879_882del (p.Phe293fs)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.886G>A (p.Asp296Asn)
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.913C>T (p.Gln305Ter)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+10T>A
NM_000377.3(WAS):c.931+14T>C
NM_000377.3(WAS):c.931+15C>T
NM_000377.3(WAS):c.931+19A>C
NM_000377.3(WAS):c.931+1G>C
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.931+20C>T
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.931+7C>A
NM_000377.3(WAS):c.932-10C>T
NM_000377.3(WAS):c.932-11C>A
NM_000377.3(WAS):c.932-12C>A
NM_000377.3(WAS):c.932-12C>T
NM_000377.3(WAS):c.932-15A>G
NM_000377.3(WAS):c.932-18_932-17del
NM_000377.3(WAS):c.932-5C>T
NM_000377.3(WAS):c.932-9C>A
NM_000377.3(WAS):c.932-9_932-8dup
NM_000377.3(WAS):c.942G>A (p.Pro314=)
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.953C>T (p.Pro318Leu)
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.96C>G (p.Asn32Lys)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.987C>T (p.Pro329=)
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
NM_000377.3(WAS):c.996G>C (p.Val332=)
NM_000377.3(WAS):c.996G>T (p.Val332=)
NM_000377.3(WAS):c.998G>C (p.Gly333Ala)
NM_000377.3(WAS):c.999G>C (p.Gly333=)

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.