ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-II

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 321
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
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 0.00020
NM_000202.8(IDS):c.507+6G>T rs370769925 0.00012
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00011
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.1006+8T>C rs782781942 0.00008
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.304C>T (p.Leu102=) rs782790524 0.00008
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys) rs141037133 0.00007
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00007
NM_000202.8(IDS):c.421A>T (p.Ile141Leu) rs781999172 0.00007
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
NM_000202.8(IDS):c.419-10T>G rs782082376 0.00006
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00005
NM_000202.8(IDS):c.507+17G>C rs372806416 0.00005
NM_000202.8(IDS):c.575C>G (p.Pro192Arg) rs139495864 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00005
NM_000202.8(IDS):c.104-9C>G rs371864469 0.00004
NM_000202.8(IDS):c.246A>G (p.Ala82=) rs1447255384 0.00004
NM_000202.8(IDS):c.501C>T (p.Asn167=) rs375547801 0.00004
NM_000202.8(IDS):c.576C>T (p.Pro192=) rs1286461259 0.00004
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000202.8(IDS):c.880-19A>T rs781883143 0.00004
NM_000202.8(IDS):c.1047C>T (p.Ser349=) rs375836575 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
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.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.418+11A>G rs374708997 0.00003
NM_000202.8(IDS):c.477T>C (p.His159=) rs782649306 0.00003
NM_000202.8(IDS):c.517G>A (p.Gly173Arg) rs144334959 0.00003
NM_000202.8(IDS):c.708+19G>T rs782662196 0.00003
NM_000202.8(IDS):c.759C>T (p.Pro253=) rs1214276270 0.00003
NM_000202.8(IDS):c.982A>G (p.Ile328Val) rs782156020 0.00003
NM_000202.8(IDS):c.103+13C>G rs782012915 0.00002
NM_000202.8(IDS):c.103+6G>A rs781956472 0.00002
NM_000202.8(IDS):c.1077G>C (p.Leu359=) rs913480314 0.00002
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser) rs782657740 0.00002
NM_000202.8(IDS):c.1226C>T (p.Thr409Met) rs782543505 0.00002
NM_000202.8(IDS):c.1479C>T (p.Arg493=) rs1259829678 0.00002
NM_000202.8(IDS):c.147C>T (p.Pro49=) rs1557340415 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 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.309C>T (p.Tyr103=) rs1174495581 0.00002
NM_000202.8(IDS):c.508-6T>C rs1352374568 0.00002
NM_000202.8(IDS):c.557T>C (p.Val186Ala) rs782007728 0.00002
NM_000202.8(IDS):c.681G>A (p.Lys227=) rs1557339514 0.00002
NM_000202.8(IDS):c.826G>A (p.Val276Ile) rs200694354 0.00002
NM_000202.8(IDS):c.852G>A (p.Pro284=) rs782470007 0.00002
NM_000202.8(IDS):c.880-19A>G rs781883143 0.00002
NM_000202.8(IDS):c.918T>C (p.Tyr306=) rs781920980 0.00002
NM_000202.8(IDS):c.929A>G (p.Gln310Arg) rs782210625 0.00002
NM_000202.8(IDS):c.955G>A (p.Asp319Asn) rs782549285 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000202.8(IDS):c.995C>T (p.Thr332Ile) rs782704207 0.00002
NM_000202.8(IDS):c.999G>A (p.Ser333=) rs1483244890 0.00002
NM_000202.8(IDS):c.1006+12G>T rs1424435938 0.00001
NM_000202.8(IDS):c.1007-4C>T rs781947914 0.00001
NM_000202.8(IDS):c.1007-9A>G rs927728129 0.00001
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu) rs1557338133 0.00001
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) rs782471629 0.00001
NM_000202.8(IDS):c.1128G>A (p.Lys376=) rs1266043821 0.00001
NM_000202.8(IDS):c.114C>T (p.Asn38=) rs149512799 0.00001
NM_000202.8(IDS):c.1164A>G (p.Ser388=) rs782363616 0.00001
NM_000202.8(IDS):c.1180+10A>G rs1173314448 0.00001
NM_000202.8(IDS):c.1180+7A>C rs2089340679 0.00001
NM_000202.8(IDS):c.1181-19C>G rs1557337665 0.00001
NM_000202.8(IDS):c.1257A>G (p.Pro419=) rs782066597 0.00001
NM_000202.8(IDS):c.1293G>C (p.Leu431=) rs782203657 0.00001
NM_000202.8(IDS):c.1338C>T (p.Asp446=) rs2089306604 0.00001
NM_000202.8(IDS):c.1353G>A (p.Pro451=) rs920711197 0.00001
NM_000202.8(IDS):c.1422G>A (p.Gln474=) rs1569560371 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629 0.00001
NM_000202.8(IDS):c.1536T>A (p.Ala512=) rs782673868 0.00001
NM_000202.8(IDS):c.1560G>A (p.Gly520=) rs782724941 0.00001
NM_000202.8(IDS):c.1617C>T (p.Ser539=) rs782717602 0.00001
NM_000202.8(IDS):c.1623T>G (p.Gly541=) rs1557337565 0.00001
NM_000202.8(IDS):c.1626A>C (p.Gly542=) rs975572043 0.00001
NM_000202.8(IDS):c.172C>T (p.Leu58=) rs1267973079 0.00001
NM_000202.8(IDS):c.18C>T (p.Thr6=) rs369954416 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.240+12A>G rs2089503473 0.00001
NM_000202.8(IDS):c.252C>T (p.Cys84=) rs1557340286 0.00001
NM_000202.8(IDS):c.258G>A (p.Pro86=) rs1557340277 0.00001
NM_000202.8(IDS):c.264C>T (p.Arg88=) rs375362189 0.00001
NM_000202.8(IDS):c.285G>A (p.Arg95=) rs782779732 0.00001
NM_000202.8(IDS):c.37C>T (p.Leu13=) rs782272803 0.00001
NM_000202.8(IDS):c.419-6T>C rs1243973593 0.00001
NM_000202.8(IDS):c.448C>T (p.Pro150Ser) rs1557339910 0.00001
NM_000202.8(IDS):c.49C>T (p.Leu17=) rs781834400 0.00001
NM_000202.8(IDS):c.504T>A (p.Thr168=) rs1557339882 0.00001
NM_000202.8(IDS):c.507+7C>T rs1225416290 0.00001
NM_000202.8(IDS):c.508-15A>G rs1557339558 0.00001
NM_000202.8(IDS):c.508-8T>G rs782357858 0.00001
NM_000202.8(IDS):c.51G>C (p.Leu17=) rs1352041987 0.00001
NM_000202.8(IDS):c.546G>A (p.Leu182=) rs2520864817 0.00001
NM_000202.8(IDS):c.578A>G (p.Glu193Gly) rs782169164 0.00001
NM_000202.8(IDS):c.57C>G (p.Ser19=) rs1213093718 0.00001
NM_000202.8(IDS):c.625T>C (p.Leu209=) rs2520863444 0.00001
NM_000202.8(IDS):c.642G>A (p.Thr214=) rs1738744298 0.00001
NM_000202.8(IDS):c.738C>T (p.Asn246=) rs1569560481 0.00001
NM_000202.8(IDS):c.795C>T (p.Asn265=) rs1207417919 0.00001
NM_000202.8(IDS):c.807C>T (p.Asp269=) rs1557339297 0.00001
NM_000202.8(IDS):c.880-20T>A rs782517021 0.00001
NM_000202.8(IDS):c.889C>T (p.Arg297Cys) rs782408729 0.00001
NM_000202.8(IDS):c.906C>G (p.Ala302=) rs1227669625 0.00001
NM_000202.8(IDS):c.92A>G (p.Asn31Ser) rs184190241 0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=) rs782608372 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000202.8(IDS):c.974A>G (p.Asn325Ser) rs202218431 0.00001
NM_000202.8(IDS):c.1006+19C>G rs782356881
NM_000202.8(IDS):c.1006+19C>T rs782356881
NM_000202.8(IDS):c.1006+9T>C rs2520811248
NM_000202.8(IDS):c.1007-20C>T rs2124006523
NM_000202.8(IDS):c.103+11C>T rs2089513974
NM_000202.8(IDS):c.103+12G>A rs782156440
NM_000202.8(IDS):c.103+14C>T rs2520909336
NM_000202.8(IDS):c.103+19C>T rs2520909276
NM_000202.8(IDS):c.103+9C>T rs1163534317
NM_000202.8(IDS):c.104-10T>A rs2520902885
NM_000202.8(IDS):c.104-16C>G rs1557340437
NM_000202.8(IDS):c.104-16C>T rs1557340437
NM_000202.8(IDS):c.104-17C>T rs2520902983
NM_000202.8(IDS):c.104-19G>A rs2520903026
NM_000202.8(IDS):c.104-4G>A rs2124066481
NM_000202.8(IDS):c.104-7T>C
NM_000202.8(IDS):c.1044C>T (p.Tyr348=) rs1569560392
NM_000202.8(IDS):c.1053T>C (p.Phe351=) rs2124006183
NM_000202.8(IDS):c.1065C>T (p.Thr355=) rs2520784615
NM_000202.8(IDS):c.1067A>G (p.His356Arg) rs782023226
NM_000202.8(IDS):c.1089T>C (p.Val363=) rs2089342297
NM_000202.8(IDS):c.108T>G (p.Ala36=) rs2089505645
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1101G>A (p.Thr367=) rs2520783969
NM_000202.8(IDS):c.1113G>T (p.Pro371=) rs146615651
NM_000202.8(IDS):c.1122C>A (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1149T>G (p.Pro383=) rs2520783161
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu) rs781925060
NM_000202.8(IDS):c.1180+14T>C rs1557338098
NM_000202.8(IDS):c.1180+17A>G rs1402661618
NM_000202.8(IDS):c.1180+20G>A rs2520782564
NM_000202.8(IDS):c.1188A>G (p.Gln396=) rs2123995158
NM_000202.8(IDS):c.1191C>T (p.Ser397=) rs2520758893
NM_000202.8(IDS):c.1196A>T (p.Asp399Val) rs1557337663
NM_000202.8(IDS):c.1197C>T (p.Asp399=) rs2520758772
NM_000202.8(IDS):c.1203G>A (p.Val401=) rs2520758686
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala) rs782657740
NM_000202.8(IDS):c.1248G>T (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.1254T>G (p.Val418=) rs1557337653
NM_000202.8(IDS):c.1275T>A (p.Pro425=) rs2520757507
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
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.12C>G (p.Pro4=) rs2520911105
NM_000202.8(IDS):c.12C>T (p.Pro4=) rs2520911105
NM_000202.8(IDS):c.1317G>T (p.Leu439=) rs2520756927
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys) rs929376875
NM_000202.8(IDS):c.1334G>A (p.Arg445His) rs782371096
NM_000202.8(IDS):c.1335T>C (p.Arg445=) rs2089306640
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg) rs369603623
NM_000202.8(IDS):c.1353G>C (p.Pro451=) rs920711197
NM_000202.8(IDS):c.1371C>G (p.Pro457=) rs2520756150
NM_000202.8(IDS):c.1378C>T (p.Leu460=) rs2520756010
NM_000202.8(IDS):c.1380G>A (p.Leu460=) rs782063057
NM_000202.8(IDS):c.1389T>C (p.Tyr463=) rs2520755856
NM_000202.8(IDS):c.1395G>A (p.Gln465=) rs2123994427
NM_000202.8(IDS):c.13C>A (p.Arg5=) rs141900718
NM_000202.8(IDS):c.1416C>T (p.Ile472=) rs2123994324
NM_000202.8(IDS):c.1434C>T (p.Asp478=) rs2520755159
NM_000202.8(IDS):c.1440G>A (p.Pro480=) rs2089305146
NM_000202.8(IDS):c.1443T>C (p.Ser481=) rs2520754969
NM_000202.8(IDS):c.1452T>C (p.Asp484=) rs2520754811
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.1500T>A (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.1503G>C (p.Val501=) rs2520753803
NM_000202.8(IDS):c.1512C>T (p.Gly504=)
NM_000202.8(IDS):c.151C>T (p.Leu51=) rs1340608360
NM_000202.8(IDS):c.1531C>T (p.Leu511=) rs782272275
NM_000202.8(IDS):c.1533A>G (p.Leu511=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=) rs782673868
NM_000202.8(IDS):c.1539C>T (p.Asn513=) rs1557337587
NM_000202.8(IDS):c.1564C>T (p.Leu522=) rs2124648290
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=) rs1433886820
NM_000202.8(IDS):c.1588T>C (p.Leu530=) rs2089303537
NM_000202.8(IDS):c.15G>A (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.15G>T (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.1608T>C (p.Tyr536=) rs2089303285
NM_000202.8(IDS):c.1629T>C (p.Asp543=) rs782379005
NM_000202.8(IDS):c.165G>A (p.Gly55=) rs2520901539
NM_000202.8(IDS):c.171G>A (p.Lys57=) rs2520901481
NM_000202.8(IDS):c.183C>A (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.183C>T (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.18C>G (p.Thr6=) rs369954416
NM_000202.8(IDS):c.198A>G (p.Gln66=) rs1557340398
NM_000202.8(IDS):c.205T>A (p.Ser69Thr)
NM_000202.8(IDS):c.207C>T (p.Ser69=) rs2089503984
NM_000202.8(IDS):c.213C>T (p.Ser71=) rs2520900915
NM_000202.8(IDS):c.222C>T (p.Phe74=) rs2520900832
NM_000202.8(IDS):c.225G>A (p.Gln75=)
NM_000202.8(IDS):c.22C>A (p.Arg8=) rs1602750610
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.237G>C (p.Ala79=)
NM_000202.8(IDS):c.240+11del rs1557340384
NM_000202.8(IDS):c.240+14C>T rs2520900368
NM_000202.8(IDS):c.240+20G>A rs2089503338
NM_000202.8(IDS):c.240+7C>T rs2124065624
NM_000202.8(IDS):c.241-14C>G rs1557340289
NM_000202.8(IDS):c.241-16T>C rs2520897385
NM_000202.8(IDS):c.241-5A>G rs113993952
NM_000202.8(IDS):c.241-6T>G rs2089497826
NM_000202.8(IDS):c.241-7C>T rs2124063828
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.300C>T (p.Thr100=) rs2124063502
NM_000202.8(IDS):c.306G>A (p.Leu102=) rs2520896481
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.31C>T (p.Leu11Phe) rs1557340600
NM_000202.8(IDS):c.333G>T (p.Val111=) rs2124063244
NM_000202.8(IDS):c.33C>T (p.Leu11=) rs2520910780
NM_000202.8(IDS):c.34T>C (p.Trp12Arg) rs1557340598
NM_000202.8(IDS):c.360C>G (p.Pro120=) rs2520895760
NM_000202.8(IDS):c.372G>A (p.Lys124=)
NM_000202.8(IDS):c.378T>C (p.Asn126=) rs2124063034
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.418+10C>T rs2520894891
NM_000202.8(IDS):c.418+14T>A rs781915630
NM_000202.8(IDS):c.418+20G>T rs1557340214
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.418+8T>C rs2520894932
NM_000202.8(IDS):c.418+9C>G rs2520894915
NM_000202.8(IDS):c.419-10T>C rs782082376
NM_000202.8(IDS):c.419-12T>A
NM_000202.8(IDS):c.419-17C>G rs2089476603
NM_000202.8(IDS):c.419-4del rs1388290723
NM_000202.8(IDS):c.420G>T (p.Gly140=) rs1557339924
NM_000202.8(IDS):c.438C>A (p.Thr146=) rs1141608
NM_000202.8(IDS):c.441T>C (p.Asp147=) rs782016642
NM_000202.8(IDS):c.450G>T (p.Pro150=) rs201892132
NM_000202.8(IDS):c.465T>C (p.Phe155=) rs149210251
NM_000202.8(IDS):c.474T>C (p.Tyr158=) rs2520880726
NM_000202.8(IDS):c.480T>A (p.Pro160=) rs2124055254
NM_000202.8(IDS):c.483C>T (p.Ser161=) rs2124055212
NM_000202.8(IDS):c.507+14A>G rs377410868
NM_000202.8(IDS):c.507+17G>T rs372806416
NM_000202.8(IDS):c.507+20A>G rs2520880179
NM_000202.8(IDS):c.507+20A>T rs2520880179
NM_000202.8(IDS):c.508-16T>C
NM_000202.8(IDS):c.508-19T>A rs2124047400
NM_000202.8(IDS):c.508-19T>C rs2124047400
NM_000202.8(IDS):c.508-20A>G rs1051207857
NM_000202.8(IDS):c.508-20del rs2520865670
NM_000202.8(IDS):c.508-5G>T rs1889382373
NM_000202.8(IDS):c.516A>G (p.Arg172=) rs782751345
NM_000202.8(IDS):c.522A>G (p.Pro174=) rs2124047235
NM_000202.8(IDS):c.534C>T (p.Leu178=) rs2124047211
NM_000202.8(IDS):c.540C>T (p.Ala180=) rs2089452510
NM_000202.8(IDS):c.54C>T (p.Ser18=) rs782607292
NM_000202.8(IDS):c.570T>C (p.Asp190=) rs2520864567
NM_000202.8(IDS):c.576C>G (p.Pro192=) rs1286461259
NM_000202.8(IDS):c.63C>T (p.Cys21=) rs2124069268
NM_000202.8(IDS):c.642G>T (p.Thr214=) rs1738744298
NM_000202.8(IDS):c.669T>G (p.Val223=) rs2124046491
NM_000202.8(IDS):c.66C>T (p.Val22=) rs1469964896
NM_000202.8(IDS):c.693C>T (p.Pro231=) rs2124046263
NM_000202.8(IDS):c.69C>G (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.69C>T (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.702C>T (p.Tyr234=) rs1569560489
NM_000202.8(IDS):c.705C>T (p.Pro235=) rs2520862120
NM_000202.8(IDS):c.708+10T>A rs2124046135
NM_000202.8(IDS):c.709-4C>T
NM_000202.8(IDS):c.709-5C>T rs970568454
NM_000202.8(IDS):c.729C>T (p.Pro243=) rs2520852496
NM_000202.8(IDS):c.72C>T (p.Leu24=) rs781800570
NM_000202.8(IDS):c.744C>T (p.Thr248=) rs1359058135
NM_000202.8(IDS):c.747G>A (p.Leu249=) rs2124041932
NM_000202.8(IDS):c.750C>G (p.Ala250=) rs200287137
NM_000202.8(IDS):c.759C>G (p.Pro253=) rs1214276270
NM_000202.8(IDS):c.777A>T (p.Leu259=) rs782773319
NM_000202.8(IDS):c.780C>T (p.Pro260=) rs2520851532
NM_000202.8(IDS):c.783T>C (p.Pro261=) rs782714453
NM_000202.8(IDS):c.78C>A (p.Ser26=) rs2520910059
NM_000202.8(IDS):c.813G>A (p.Arg271=) rs2520850738
NM_000202.8(IDS):c.816A>G (p.Gln272=) rs2520850663
NM_000202.8(IDS):c.819G>A (p.Arg273=) rs2520850607
NM_000202.8(IDS):c.826G>C (p.Val276Leu) rs200694354
NM_000202.8(IDS):c.834C>T (p.Ala278=) rs2124041303
NM_000202.8(IDS):c.846T>C (p.Ser282=) rs2520850299
NM_000202.8(IDS):c.84G>T (p.Thr28=) rs1194554189
NM_000202.8(IDS):c.858T>G (p.Gly286=) rs2520850128
NM_000202.8(IDS):c.879+10A>G rs2124041048
NM_000202.8(IDS):c.879+11del rs2520849696
NM_000202.8(IDS):c.879+12A>G rs2520849675
NM_000202.8(IDS):c.879+14A>G rs2520849650
NM_000202.8(IDS):c.879+17T>G rs2520849634
NM_000202.8(IDS):c.879+20G>A rs2520849578
NM_000202.8(IDS):c.879+7A>G rs2520849777
NM_000202.8(IDS):c.879+9G>C rs2520849739
NM_000202.8(IDS):c.880-12T>G
NM_000202.8(IDS):c.880-19del rs2520814193
NM_000202.8(IDS):c.880-5del rs1458652265
NM_000202.8(IDS):c.909T>C (p.Ser303=) rs2520813124
NM_000202.8(IDS):c.931G>C (p.Val311Leu) rs1557338597
NM_000202.8(IDS):c.954G>A (p.Leu318=) rs2124020303
NM_000202.8(IDS):c.966G>A (p.Gln322=) rs2124020165
NM_000202.8(IDS):c.967C>T (p.Leu323=) rs2124020149
NM_000202.8(IDS):c.978C>T (p.Ser326=) rs2520811886

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