ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu) rs1462850727 0.00016
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00015
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp) rs565375837 0.00011
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro) rs373037758 0.00008
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu) rs371369206 0.00007
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg) rs753372554 0.00006
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys) rs866224971 0.00006
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) rs138826105 0.00006
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser) rs775641597 0.00005
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys) rs1257968688 0.00004
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00004
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser) rs575667885 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.1622G>T (p.Cys541Phe) rs950213013 0.00003
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.1529C>T (p.Pro510Leu) rs794727017 0.00002
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00002
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.1112T>A (p.Val371Asp) rs1475290359 0.00001
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu) rs1038727823 0.00001
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr) rs1157083700 0.00001
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val) rs1253435204 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu) rs1197582697 0.00001
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys) rs1436395282 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.159C>T (p.Cys53=) rs758190824 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.1716C>G (p.His572Gln) rs1253075699 0.00001
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu) rs146588560 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.1802C>T (p.Thr601Ile) rs200089576 0.00001
NM_000203.5(IDUA):c.193G>A (p.Val65Ile) rs762406262 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.300G>T (p.Arg100Ser) rs1340970137 0.00001
NM_000203.5(IDUA):c.31C>G (p.Leu11Val) rs1423609884 0.00001
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr) rs762623046 0.00001
NM_000203.5(IDUA):c.557A>G (p.His186Arg) rs758439259 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.814A>C (p.Ile272Leu) rs536381533 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 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.1007A>C (p.Asn336Thr)
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala) rs1216054018
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu) rs1715147247
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del) rs1715148258
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
NM_000203.5(IDUA):c.1140G>T (p.Gln380His)
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn) rs1244370377
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
NM_000203.5(IDUA):c.1188G>A (p.Leu396=) rs747406598
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
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)
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly) rs1188900288
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro)
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
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.1375C>T (p.Arg459Trp) rs2153022668
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu) rs1715193201
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu)
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala) rs888528622
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
NM_000203.5(IDUA):c.1402+5G>A
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly) rs2153015259
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr)
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp) rs778314567
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala)
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln) rs769566506
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu)
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu) rs1051249739
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met) rs749053703
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu) rs2153015595
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser)
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
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.1679C>T (p.Thr560Ile)
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro) rs2153015609
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala)
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
NM_000203.5(IDUA):c.1727+6T>A
NM_000203.5(IDUA):c.1728-3C>G
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys) rs144941693
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly)
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
NM_000203.5(IDUA):c.1828+4C>T
NM_000203.5(IDUA):c.1829-3C>T
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro) rs762399936
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)
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp) rs750609855
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
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)
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys) rs771733089
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
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.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg) rs2153021609
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys) rs1715015091
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
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.438G>C (p.Lys146Asn)
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly)
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu) rs2153021723
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
NM_000203.5(IDUA):c.493+4G>A
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.493+6C>T rs376738689
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg) rs748326989
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
NM_000203.5(IDUA):c.512A>G (p.His171Arg)
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
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)
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp)
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
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)
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr) rs183347428
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
NM_000203.5(IDUA):c.720C>G (p.His240Gln) rs1715096917
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.741C>A (p.Phe247Leu)
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu) rs2153022099
NM_000203.5(IDUA):c.793-9C>A
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
NM_000203.5(IDUA):c.826_828del (p.Glu276del)
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu) rs1715117568
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr) rs1715120993
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr) rs1715123919
NM_000203.5(IDUA):c.94G>T (p.Val32Leu) rs566741452
NM_000203.5(IDUA):c.950C>T (p.Thr317Ile)
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
NM_000203.5(IDUA):c.973-13T>G
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.984G>C (p.Gln328His)

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