ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00371
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000203.5(IDUA):c.299+7G>A rs200911718 0.00276
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000203.5(IDUA):c.493+7G>A rs200509712 0.00052
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00042
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser) rs144941693 0.00024
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00018
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro) rs367813829 0.00017
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu) rs1462850727 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000203.5(IDUA):c.1863A>C (p.Arg621=) rs762586 0.00015
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp) rs565375837 0.00010
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00010
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00007
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu) rs371369206 0.00007
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser) rs372305229 0.00007
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro) rs373037758 0.00007
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg) rs753372554 0.00006
NM_000203.5(IDUA):c.1402+5G>A rs1039668945 0.00006
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) rs138826105 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342 0.00006
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys) rs866224971 0.00005
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu) rs4690224 0.00005
NM_000203.5(IDUA):c.1728-9C>T rs374775605 0.00005
NM_000203.5(IDUA):c.1828+4C>T rs370221627 0.00005
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser) rs775641597 0.00005
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00005
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083 0.00004
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488 0.00004
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys) rs1047330206 0.00004
NM_000203.5(IDUA):c.248G>A (p.Arg83His) rs141461803 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp) rs779553529 0.00004
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr) rs778952883 0.00004
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala) rs1001972534 0.00004
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553 0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723 0.00004
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro) rs978350437 0.00003
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00003
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys) rs771733089 0.00003
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00003
NM_000203.5(IDUA):c.493+4G>A rs969058029 0.00003
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser) rs140294059 0.00003
NM_000203.5(IDUA):c.629G>A (p.Arg210His) rs371021597 0.00003
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu) rs368241547 0.00003
NM_000203.5(IDUA):c.8C>A (p.Pro3His) rs1333424959 0.00003
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000203.5(IDUA):c.1195G>A (p.Glu399Lys) rs1034769935 0.00002
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu) rs989669026 0.00002
NM_000203.5(IDUA):c.1402+8G>A rs1315308939 0.00002
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp) rs570594115 0.00002
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu) rs794727017 0.00002
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln) rs920228043 0.00002
NM_000203.5(IDUA):c.216C>G (p.Leu72=) rs1174720330 0.00002
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234 0.00002
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly) rs201345740 0.00002
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala) rs537047205 0.00002
NM_000203.5(IDUA):c.494-43C>T rs147390369 0.00002
NM_000203.5(IDUA):c.793-5C>T rs773072991 0.00002
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533 0.00002
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg) rs768462916 0.00002
NM_000203.5(IDUA):c.984G>C (p.Gln328His) rs746606129 0.00002
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr) rs760137408 0.00001
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe) rs1421727441 0.00001
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe) rs1279043542 0.00001
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr) rs772855552 0.00001
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu) rs918621189 0.00001
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu) rs1038727823 0.00001
NM_000203.5(IDUA):c.1140G>T (p.Gln380His) rs1280484403 0.00001
NM_000203.5(IDUA):c.1168A>G (p.Met390Val) rs1455637147 0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273 0.00001
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val) rs1253435204 0.00001
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly) rs1715177435 0.00001
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00001
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu) rs1197582697 0.00001
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly) rs1316884593 0.00001
NM_000203.5(IDUA):c.1340G>A (p.Arg447His) rs1230224695 0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=) rs1370338557 0.00001
NM_000203.5(IDUA):c.1403-11A>G rs1335436961 0.00001
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu) rs746018077 0.00001
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys) rs1436395282 0.00001
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu) rs1290558249 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg) rs1051249739 0.00001
NM_000203.5(IDUA):c.159C>T (p.Cys53=) rs758190824 0.00001
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys) rs1257968688 0.00001
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val) rs1171379194 0.00001
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu) rs778877259 0.00001
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu) rs746698197 0.00001
NM_000203.5(IDUA):c.1664G>A (p.Arg555His) rs776276938 0.00001
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr) rs771540729 0.00001
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile) rs773249605 0.00001
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala) rs371671953 0.00001
NM_000203.5(IDUA):c.1716C>G (p.His572Gln) rs1253075699 0.00001
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu) rs146588560 0.00001
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe) rs1715262626 0.00001
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys) rs762037549 0.00001
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) rs398123257 0.00001
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg) rs773238336 0.00001
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile) rs200089576 0.00001
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln) rs762399936 0.00001
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs) rs1292032609 0.00001
NM_000203.5(IDUA):c.193G>A (p.Val65Ile) rs762406262 0.00001
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe) rs762223172 0.00001
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu) rs751132616 0.00001
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser) rs970991915 0.00001
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp) rs751792135 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471 0.00001
NM_000203.5(IDUA):c.299+10G>A rs775172497 0.00001
NM_000203.5(IDUA):c.299+8G>A rs546988577 0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606 0.00001
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser) rs1340970137 0.00001
NM_000203.5(IDUA):c.31C>G (p.Leu11Val) rs1423609884 0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994 0.00001
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr) rs762623046 0.00001
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650 0.00001
NM_000203.5(IDUA):c.553C>G (p.His185Asp) rs147174054 0.00001
NM_000203.5(IDUA):c.557A>G (p.His186Arg) rs758439259 0.00001
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser) rs1039051028 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu) rs756131787 0.00001
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp) rs1178237301 0.00001
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759 0.00001
NM_000203.5(IDUA):c.692C>T (p.Ser231Phe) rs933301757 0.00001
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser) rs775731864 0.00001
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly) rs1001962975 0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr) rs375305122 0.00001
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp) rs1426919426 0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe) rs113373271 0.00001
NM_000203.5(IDUA):c.94G>T (p.Val32Leu) rs566741452 0.00001
NM_000203.5(IDUA):c.950C>T (p.Thr317Ile) rs1170717159 0.00001
NM_000203.5(IDUA):c.972+8G>A rs774327124 0.00001
NC_000004.11:g.(?_980871)_(981050_?)dup
NC_000004.11:g.(?_980871)_(985491_?)dup
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.*100A>G rs1049376214
NM_000203.5(IDUA):c.-2C>T rs1472246458
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro) rs754095810
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer) rs1378699648
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp) rs747827435
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val) rs1715142270
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala) rs1216054018
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys) rs121965032
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg) rs121965032
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu) rs2534089715
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu) rs1715147247
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg) rs911374070
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp) rs1475290359
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del) rs1715148258
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys) rs761263557
NM_000203.5(IDUA):c.1135G>A (p.Val379Met) rs1271868719
NM_000203.5(IDUA):c.1149C>T (p.Arg383=) rs767632084
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn) rs1244370377
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser) rs752529809
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr) rs1157083700
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del) rs1715154882
NM_000203.5(IDUA):c.1188G>A (p.Leu396=) rs747406598
NM_000203.5(IDUA):c.1189+6C>T
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del) rs1715175891
NM_000203.5(IDUA):c.1213G>A (p.Val405Met) rs2534092373
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del) rs1168660379
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser) rs2534092636
NM_000203.5(IDUA):c.1253T>C (p.Val418Ala)
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe) rs1029767148
NM_000203.5(IDUA):c.1265C>T (p.Ala422Val)
NM_000203.5(IDUA):c.1283A>G (p.Gln428Arg)
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly) rs1188900288
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys) rs1188900288
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro) rs1259428940
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg) rs1434999845
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly) rs1715189170
NM_000203.5(IDUA):c.1337C>A (p.Thr446Asn) rs1295530132
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro) rs1448806369
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn) rs2153022656
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly) rs1715192601
NM_000203.5(IDUA):c.1375C>T (p.Arg459Trp) rs2153022668
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu) rs1715193201
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu) rs1715194225
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala) rs888528622
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly) rs2153015259
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg) rs746110764
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys) rs1309472813
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr) rs1715208911
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp) rs778314567
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu) rs121965026
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu) rs375819348
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu) rs2534095371
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala) rs1395863303
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu) rs1232852509
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln) rs769566506
NM_000203.5(IDUA):c.1509_1511del (p.Met504del) rs2534095558
NM_000203.5(IDUA):c.151G>A (p.Gly51Ser)
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu) rs2534097175
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser) rs2534097230
NM_000203.5(IDUA):c.1544C>G (p.Pro515Arg)
NM_000203.5(IDUA):c.1547G>A (p.Arg516His) rs953150250
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu) rs1051249739
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro) rs1274282916
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser) rs1358581212
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu) rs1018687587
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met) rs749053703
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser) rs2534004148
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu) rs2153015595
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser) rs1715245511
NM_000203.5(IDUA):c.1628G>A (p.Arg543His) rs2534098120
NM_000203.5(IDUA):c.1650+12T>C rs1715248390
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A rs934115207
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro) rs771540729
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln) rs2153023010
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn) rs773249605
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro) rs2153015609
NM_000203.5(IDUA):c.1726A>G (p.Lys576Glu)
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1727+9G>T rs771420258
NM_000203.5(IDUA):c.1728-3C>G rs1189340410
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys) rs144941693
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly) rs2534102608
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp) rs867456178
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro) rs773238336
NM_000203.5(IDUA):c.1829-3C>T rs2534103803
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro) rs762399936
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His) rs1715312209
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile) rs2153023304
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg) rs371369206
NM_000203.5(IDUA):c.1911_1914dup (p.Leu639fs)
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala) rs2534104674
NM_000203.5(IDUA):c.1938del (p.Pro648fs) rs570293502
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser) rs754403276
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp) rs750609855
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly) rs370442463
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser) rs1441549249
NM_000203.5(IDUA):c.230T>C (p.Val77Ala) rs1560532674
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser) rs773908263
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala) rs1359058958
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met) rs2534003285
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile) rs2534008465
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly) rs1369414449
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg) rs1713872403
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg) rs2153021609
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro) rs3755955
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg) rs574025652
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys) rs1715015091
NM_000203.5(IDUA):c.348G>A (p.Gly116=) rs1715016939
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.36_44del (p.10LLA[1])
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla) rs1284049920
NM_000203.5(IDUA):c.394C>T (p.Leu132=) rs1480225127
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp) rs769949390
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu) rs769949390
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp) rs866656054
NM_000203.5(IDUA):c.416A>C (p.His139Pro) rs2153021706
NM_000203.5(IDUA):c.429T>A (p.Phe143Leu)
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn) rs774214351
NM_000203.5(IDUA):c.447G>A (p.Val149=)
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly) rs2534079406
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu) rs2153021723
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla) rs398123260
NM_000203.5(IDUA):c.471C>T (p.Ser157=) rs2534079529
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.493+6C>T rs376738689
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser) rs748326989
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg) rs748326989
NM_000203.5(IDUA):c.509C>T (p.Ala170Val) rs764394402
NM_000203.5(IDUA):c.512A>G (p.His171Arg) rs1715069237
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln) rs992336192
NM_000203.5(IDUA):c.556C>T (p.His186Tyr) rs1383523877
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro) rs1713786448
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys) rs1189807498
NM_000203.5(IDUA):c.579G>A (p.Met193Ile) rs2153021918
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro) rs1327366420
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser) rs2534003556
NM_000203.5(IDUA):c.618G>A (p.Ser206=) rs377312287
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp) rs753678881
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln) rs2534084566
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.641C>G (p.Pro214Arg) rs2534084703
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg) rs2534084817
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr) rs183347428
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu) rs1715092108
NM_000203.5(IDUA):c.709C>G (p.Leu237Val) rs74385837
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser) rs1715096263
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn) rs1460797649
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile) rs1226615259
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile) rs760812013
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu) rs1173398291
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu) rs2153022099
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-9C>A rs375798875
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.826_828del (p.Glu276del) rs2534087192
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp) rs779448832
NM_000203.5(IDUA):c.837C>T (p.Val279=) rs758749484
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys) rs748239393
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu) rs1715117568
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu) rs1031564096
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr) rs1715120993
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly) rs1285575274
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu) rs2534087842
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg) rs377684568
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr) rs1715123919
NM_000203.5(IDUA):c.952T>C (p.Tyr318His) rs2534088071
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr) rs1398575078
NM_000203.5(IDUA):c.964G>T (p.Val322Leu) rs1433608644
NM_000203.5(IDUA):c.972+6C>G
NM_000203.5(IDUA):c.973-13T>G rs1715134673
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro) rs1222686614

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