ClinVar Miner

List of variants studied for Mucopolysaccharidosis

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) rs1353058781 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) rs370523900
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) rs1372286994
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) rs1803654249

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