ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported as likely benign for Mucopolysaccharidosis type 1

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_022042.4(SLC26A1):c.*1032C>T rs886180069 0.00016
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000203.5(IDUA):c.240C>G (p.Val80=) rs373277285 0.00009
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 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_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.158+8C>T rs1210900840 0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=) rs1378930636 0.00001
NM_000203.5(IDUA):c.192C>T (p.Tyr64=) rs121965022 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.249C>T (p.Arg83=) rs765563471 0.00001
NM_000203.5(IDUA):c.255C>T (p.Ile85=) rs983913564 0.00001
NM_000203.5(IDUA):c.39C>T (p.Leu13=) rs1335015335 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_000203.5(IDUA):c.108G>C (p.Ala36=)
NM_000203.5(IDUA):c.127C>T (p.Leu43=) rs2153015240
NM_000203.5(IDUA):c.132G>A (p.Arg44=) rs2153015245
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
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.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.159-17C>T
NM_000203.5(IDUA):c.159-18C>T
NM_000203.5(IDUA):c.159-20C>A
NM_000203.5(IDUA):c.159-20C>T
NM_000203.5(IDUA):c.159-9T>C
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.162C>T (p.Pro54=) rs1378930636
NM_000203.5(IDUA):c.165G>A (p.Pro55=) rs1316670340
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
NM_000203.5(IDUA):c.18C>T (p.Pro6=) rs1412821087
NM_000203.5(IDUA):c.21C>A (p.Arg7=) rs1240723907
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
NM_000203.5(IDUA):c.228T>C (p.Tyr76=) rs2153015654
NM_000203.5(IDUA):c.246C>T (p.His82=) rs148775298
NM_000203.5(IDUA):c.249C>A (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
NM_000203.5(IDUA):c.267G>A (p.Arg89=) rs2153015687
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.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.299+14A>G
NM_000203.5(IDUA):c.299+15G>A
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
NM_000203.5(IDUA):c.36G>C (p.Ala12=) rs1403980379
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
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.63C>A (p.Pro21=) rs2153015191
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
NM_000203.5(IDUA):c.93G>A (p.Leu31=) rs2153015210
NM_000203.5(IDUA):c.96G>T (p.Val32=) rs991986320
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

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