ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported as uncertain significance for Mucopolysaccharidosis type 1

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.299+7G>A 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.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
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_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234 0.00002
NM_000203.5(IDUA):c.159C>T (p.Cys53=) rs758190824 0.00001
NM_000203.5(IDUA):c.193G>A (p.Val65Ile) rs762406262 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.299+10G>A rs775172497 0.00001
NM_000203.5(IDUA):c.299+8G>A rs546988577 0.00001
NM_000203.5(IDUA):c.31C>G (p.Leu11Val) rs1423609884 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.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.-2C>T rs1472246458
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro) rs1448806369
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly) rs2153015259
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu) rs2153015595
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro) rs2153015609
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
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.36_44dup (p.Ala15_Ser16insLeuLeuAla)
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
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_61delinsAT (p.Pro21Ser)
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
NM_000203.5(IDUA):c.94G>T (p.Val32Leu) rs566741452

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