ClinVar Miner

List of variants in gene IDUA, SLC26A1 studied for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_022042.4(SLC26A1):c.-27-209T>C rs3822020 0.66105
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_022042.4(SLC26A1):c.*1032C>T rs886180069 0.00016
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer) rs778770773 0.00010
NM_000203.5(IDUA):c.240C>G (p.Val80=) rs373277285 0.00009
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
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.64C>G (p.Pro22Ala) rs1001972534 0.00004
NM_022042.4(SLC26A1):c.*875G>A rs559064100 0.00004
NM_000203.5(IDUA):c.10C>T (p.Leu4=) rs1042371669 0.00003
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000203.5(IDUA):c.158+9T>A rs1348088042 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.42G>C (p.Leu14=) rs1021970063 0.00002
NM_000203.5(IDUA):c.138C>T (p.Phe46=) rs1238977070 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.158+1G>A rs1264013707 0.00001
NM_000203.5(IDUA):c.158+8C>T rs1210900840 0.00001
NM_000203.5(IDUA):c.159C>T (p.Cys53=) rs758190824 0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=) rs1378930636 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.192C>T (p.Tyr64=) rs121965022 0.00001
NM_000203.5(IDUA):c.193G>A (p.Val65Ile) rs762406262 0.00001
NM_000203.5(IDUA):c.198C>G (p.Leu66=) rs773925781 0.00001
NM_000203.5(IDUA):c.222C>T (p.Leu74=) rs750898638 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 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.255C>T (p.Ile85=) rs983913564 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606 0.00001
NM_000203.5(IDUA):c.31C>G (p.Leu11Val) rs1423609884 0.00001
NM_000203.5(IDUA):c.39C>T (p.Leu13=) rs1335015335 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759 0.00001
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser) rs775731864 0.00001
NM_000203.5(IDUA):c.87del (p.His30fs) rs1193085446 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000203.5(IDUA):c.91C>T (p.Leu31=) rs1257215898 0.00001
NM_022042.4(SLC26A1):c.*1043C>T rs375799555 0.00001
NM_022042.4(SLC26A1):c.*874C>T rs775172497 0.00001
NM_022042.4(SLC26A1):c.*876C>T rs546988577 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter) rs941971930 0.00001
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter) rs1162410484 0.00001
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs) rs758100654 0.00001
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup) rs778682733 0.00001
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr) rs760075470 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NC_000004.11:g.(?_980775)_(981040_?)del
NC_000004.11:g.(?_980775)_(981747_?)del
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.-14_10del (p.Met1_Leu4del)
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
NM_000203.5(IDUA):c.-2C>T rs1472246458
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
NM_000203.5(IDUA):c.127C>T (p.Leu43=) rs2153015240
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.132G>A (p.Arg44=) rs2153015245
NM_000203.5(IDUA):c.132del (p.Arg45fs) rs2153015244
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro) rs1448806369
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) rs1713799895
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del) rs1713799705
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly) rs2153015259
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
NM_000203.5(IDUA):c.147C>T (p.Ser49=) rs2153015263
NM_000203.5(IDUA):c.150A>G (p.Thr50=) rs2153015268
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.158+11C>T
NM_000203.5(IDUA):c.158+12G>A
NM_000203.5(IDUA):c.158+13C>T
NM_000203.5(IDUA):c.158+16C>G
NM_000203.5(IDUA):c.158+16C>T
NM_000203.5(IDUA):c.158+18T>C
NM_000203.5(IDUA):c.158+7G>T rs1488477352
NM_000203.5(IDUA):c.158+9T>C
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
NM_000203.5(IDUA):c.159-17C>T
NM_000203.5(IDUA):c.159-18C>T
NM_000203.5(IDUA):c.159-19_160del rs398123255
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-20C>A
NM_000203.5(IDUA):c.159-20C>T
NM_000203.5(IDUA):c.159-2A>C rs2153015588
NM_000203.5(IDUA):c.159-2A>G rs2153015588
NM_000203.5(IDUA):c.159-9T>C
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter) rs758190824
NM_000203.5(IDUA):c.15C>A (p.Arg5=)
NM_000203.5(IDUA):c.15C>G (p.Arg5=)
NM_000203.5(IDUA):c.15C>T (p.Arg5=) rs750154430
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu) rs2153015595
NM_000203.5(IDUA):c.162C>T (p.Pro54=) rs1378930636
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.165G>A (p.Pro55=) rs1316670340
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro) rs2153015609
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.175del (p.Ser59fs)
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.18C>T (p.Pro6=) rs1412821087
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly) rs370442463
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.1A>G (p.Met1Val) rs1553914737
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
NM_000203.5(IDUA):c.209del (p.Gln70fs) rs2153015644
NM_000203.5(IDUA):c.21C>A (p.Arg7=) rs1240723907
NM_000203.5(IDUA):c.224C>T (p.Ala75Val) rs1315260083
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
NM_000203.5(IDUA):c.228T>C (p.Tyr76=) rs2153015654
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.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
NM_000203.5(IDUA):c.242dup (p.His82fs) rs1713866822
NM_000203.5(IDUA):c.246C>T (p.His82=) rs148775298
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys) rs771733089
NM_000203.5(IDUA):c.249C>A (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
NM_000203.5(IDUA):c.24del (p.Ala9fs)
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
NM_000203.5(IDUA):c.267G>A (p.Arg89=) rs2153015687
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly) rs1369414449
NM_000203.5(IDUA):c.270C>T (p.Thr90=) rs1307291779
NM_000203.5(IDUA):c.27G>A (p.Ala9=)
NM_000203.5(IDUA):c.280C>T (p.Leu94=)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg) rs1713872403
NM_000203.5(IDUA):c.291C>T (p.Val97=)
NM_000203.5(IDUA):c.297C>G (p.Thr99=) rs1713873324
NM_000203.5(IDUA):c.297C>T (p.Thr99=) rs1713873324
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.299+14A>G
NM_000203.5(IDUA):c.299+15G>A
NM_000203.5(IDUA):c.299+1G>C rs398123259
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla) rs1553914754
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
NM_000203.5(IDUA):c.36G>C (p.Ala12=) rs1403980379
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter) rs567921262
NM_000203.5(IDUA):c.48G>C (p.Ser16=) rs2153015172
NM_000203.5(IDUA):c.52C>T (p.Leu18=) rs2153015176
NM_000203.5(IDUA):c.54G>A (p.Leu18=)
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro) rs1713786448
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
NM_000203.5(IDUA):c.63C>A (p.Pro21=) rs2153015191
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.65del (p.Pro22fs) rs1560531755
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
NM_000203.5(IDUA):c.93G>A (p.Leu31=) rs2153015210
NM_000203.5(IDUA):c.94G>T (p.Val32Leu) rs566741452
NM_000203.5(IDUA):c.96G>T (p.Val32=) rs991986320
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
NM_000203.5(IDUA):c.9C>T (p.Pro3=)
NM_022042.4(SLC26A1):c.*1030G>A rs538533905
NM_022042.4(SLC26A1):c.*874C>A rs775172497
NM_022042.4(SLC26A1):c.*874C>G rs775172497
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs) rs768949918
NM_022042.4(SLC26A1):c.139del (p.Arg47fs) rs1553915793
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs) rs1553915253
NM_022042.4(SLC26A1):c.154del (p.Asp52fs) rs1553915784
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs) rs1553915228
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs) rs1265696919
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs) rs1265696919
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del) rs1553915189
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs) rs1372086275
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) rs1553915192
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter) rs200798328
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs) rs1553915188
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer) rs1553915173
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs) rs1553915155
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs) rs1553915149
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter) rs752252231
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter) rs1553915726
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs) rs1553915711
NM_022042.4(SLC26A1):c.347del (p.Gly116fs) rs756881822

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