ClinVar Miner

List of variants in gene IDS studied for Mucopolysaccharidosis, MPS-II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00558
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439 0.00016
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00011
NM_000202.8(IDS):c.236C>G (p.Ala79Gly) rs368513342 0.00011
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000202.8(IDS):c.304C>T (p.Leu102=) rs782790524 0.00008
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
NM_000202.8(IDS):c.103+6G>A rs781956472 0.00005
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023 0.00005
NM_000202.8(IDS):c.104-9C>G rs371864469 0.00004
NM_000202.8(IDS):c.1290G>A (p.Glu430=) rs140633427 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.246A>G (p.Ala82=) rs1447255384 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.309C>T (p.Tyr103=) rs1174495581 0.00003
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys) rs781825818 0.00002
NM_000202.8(IDS):c.1347G>A (p.Glu449=) rs782690963 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.147C>T (p.Pro49=) rs1557340415 0.00002
NM_000202.8(IDS):c.1560G>A (p.Gly520=) rs782724941 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.177G>A (p.Val59=) rs782743276 0.00002
NM_000202.8(IDS):c.189T>C (p.Asn63=) rs782083523 0.00002
NM_000202.8(IDS):c.240+13A>G rs782621152 0.00002
NM_000202.8(IDS):c.264C>T (p.Arg88=) rs375362189 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000202.8(IDS):c.103+12G>A rs782156440 0.00001
NM_000202.8(IDS):c.114C>T (p.Asn38=) rs149512799 0.00001
NM_000202.8(IDS):c.1181-15C>T rs199965368 0.00001
NM_000202.8(IDS):c.1181-19C>G rs1557337665 0.00001
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_000202.8(IDS):c.1254T>G (p.Val418=) rs1557337653 0.00001
NM_000202.8(IDS):c.1257A>G (p.Pro419=) rs782066597 0.00001
NM_000202.8(IDS):c.1353G>A (p.Pro451=) rs920711197 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1483A>G (p.Ile495Val) rs782228221 0.00001
NM_000202.8(IDS):c.1536T>A (p.Ala512=) rs782673868 0.00001
NM_000202.8(IDS):c.1623T>G (p.Gly541=) rs1557337565 0.00001
NM_000202.8(IDS):c.198A>G (p.Gln66=) rs1557340398 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.252C>T (p.Cys84=) rs1557340286 0.00001
NM_000202.8(IDS):c.285G>A (p.Arg95=) rs782779732 0.00001
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.352A>T (p.Thr118Ser) rs2089496220 0.00001
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)dup
NC_000023.10:g.(?_148564277)_(148586667_?)del
NC_000023.10:g.(?_148564277)_(148586667_?)dup
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.10:g.(?_148582460)_(148586667_?)dup
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
NM_000202.8(IDS):c.103+11C>T
NM_000202.8(IDS):c.103+13C>G
NM_000202.8(IDS):c.103+14C>T
NM_000202.8(IDS):c.103+19C>T
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+9C>T
NM_000202.8(IDS):c.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-10T>A
NM_000202.8(IDS):c.104-16C>G
NM_000202.8(IDS):c.104-16C>T
NM_000202.8(IDS):c.104-17C>T
NM_000202.8(IDS):c.104-19G>A
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.104-2A>C rs2089505773
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.104-4G>A rs2124066481
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
NM_000202.8(IDS):c.108T>G (p.Ala36=) rs2089505645
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1181-14G>A
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1188A>G (p.Gln396=) rs2123995158
NM_000202.8(IDS):c.1188del (p.Gln396fs)
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
NM_000202.8(IDS):c.1203G>A (p.Val401=)
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) rs2089308167
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) rs2123995091
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1221del (p.Thr409fs) rs2089308131
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
NM_000202.8(IDS):c.1224dup (p.Thr409fs) rs2123995054
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) rs2089307950
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) rs2089307879
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.124A>G (p.Ile42Val) rs2089505177
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.129C>T (p.Ile43=) rs2124066238
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.133del (p.Asp45fs) rs2089504895
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter) rs2089306573
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu) rs2123994624
NM_000202.8(IDS):c.1350del (p.Pro451fs) rs2089306467
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
NM_000202.8(IDS):c.1353G>C (p.Pro451=) rs920711197
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) rs2089306333
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) rs2089504816
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
NM_000202.8(IDS):c.1387T>C (p.Tyr463His) rs1365886210
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1395G>A (p.Gln465=) rs2123994427
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs) rs2123994397
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
NM_000202.8(IDS):c.1416C>T (p.Ile472=) rs2123994324
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1422G>A (p.Gln474=) rs1569560371
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
NM_000202.8(IDS):c.1431del (p.Asp478fs) rs2089305275
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs) rs2089305109
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu) rs2123994225
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs) rs2089305017
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
NM_000202.8(IDS):c.147C>G (p.Pro49=) rs1557340415
NM_000202.8(IDS):c.1482C>T (p.Thr494=) rs2123994147
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.1503G>C (p.Val501=)
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) rs2124648374
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.151C>T (p.Leu51=) rs1340608360
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=) rs782673868
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1561dup (p.Glu521fs) rs2124648304
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1564C>T (p.Leu522=) rs2124648290
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.156C>T (p.Gly52=) rs2089504569
NM_000202.8(IDS):c.1584C>T (p.Asp528=) rs2124648280
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter) rs2124648259
NM_000202.8(IDS):c.1589dup (p.Leu530fs) rs2124648266
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.1608T>C (p.Tyr536=) rs2089303285
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
NM_000202.8(IDS):c.1617C>T (p.Ser539=) rs782717602
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
NM_000202.8(IDS):c.165G>A (p.Gly55=)
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
NM_000202.8(IDS):c.171G>A (p.Lys57=)
NM_000202.8(IDS):c.172C>T (p.Leu58=)
NM_000202.8(IDS):c.172del (p.Leu58fs)
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.182C>T (p.Ser61Phe) rs2124065955
NM_000202.8(IDS):c.183C>A (p.Ser61=)
NM_000202.8(IDS):c.183C>T (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.207C>T (p.Ser69=)
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.213C>T (p.Ser71=)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
NM_000202.8(IDS):c.222C>T (p.Phe74=)
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.240+11del
NM_000202.8(IDS):c.240+12A>G
NM_000202.8(IDS):c.240+14C>T
NM_000202.8(IDS):c.240+20G>A
NM_000202.8(IDS):c.240+2T>C
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA rs2089503537
NM_000202.8(IDS):c.240+3A>G rs2124065632
NM_000202.8(IDS):c.240+7C>T rs2124065624
NM_000202.8(IDS):c.241-14C>G
NM_000202.8(IDS):c.241-16T>C
NM_000202.8(IDS):c.241-2A>G
NM_000202.8(IDS):c.241-3C>G rs2124063783
NM_000202.8(IDS):c.241-4A>G
NM_000202.8(IDS):c.241-5A>G
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.241-6T>G
NM_000202.8(IDS):c.241-7C>T rs2124063828
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.241C>T (p.Gln81Ter)
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.258G>A (p.Pro86=)
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.283A>T (p.Arg95Trp) rs2089497268
NM_000202.8(IDS):c.285_287del (p.Arg96del)
NM_000202.8(IDS):c.292del (p.Asp98fs)
NM_000202.8(IDS):c.300C>T (p.Thr100=) rs2124063502
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.305del (p.Leu102fs) rs2089496744
NM_000202.8(IDS):c.306G>A (p.Leu102=)
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.312C>T (p.Asp104=) rs2124063377
NM_000202.8(IDS):c.315C>T (p.Phe105=) rs2124063363
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.333G>T (p.Val111=) rs2124063244
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
NM_000202.8(IDS):c.341del (p.Gly114fs)
NM_000202.8(IDS):c.346T>G (p.Phe116Val) rs2124063192
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.360C>G (p.Pro120=)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
NM_000202.8(IDS):c.378T>C (p.Asn126=) rs2124063034
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser) rs2124063021
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.403A>G (p.Lys135Glu) rs2089495673
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.404_405del (p.Lys135fs) rs1557340221
NM_000202.8(IDS):c.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.413A>G (p.His138Arg)
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.418+10C>T
NM_000202.8(IDS):c.418+11A>G
NM_000202.8(IDS):c.418+14T>A
NM_000202.8(IDS):c.418+14T>C
NM_000202.8(IDS):c.418+17A>G
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.418+20G>T
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.418+4C>G rs782011209
NM_000202.8(IDS):c.418+6_418+7del
NM_000202.8(IDS):c.418+8T>C
NM_000202.8(IDS):c.418+9C>G
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
NM_000202.8(IDS):c.[1411G>C;1418C>T]

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