ClinVar Miner

List of variants reported as pathogenic for Xanthinuria type II

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) rs142150953 0.00011
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) rs72549367 0.00004
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) rs751921838 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_017947.4(MOCOS):c.916del (p.Ile306fs) rs775406459 0.00001
NC_000002.11:g.(?_31558824)_(31637532_?)del
NC_000002.11:g.(?_31588418)_(31589011_?)del
NM_000379.4(XDH):c.1343_1350del (p.Glu448fs) rs2148776171
NM_000379.4(XDH):c.134del (p.Glu45fs)
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000379.4(XDH):c.1664dup (p.Ala556fs)
NM_000379.4(XDH):c.2473C>T (p.Arg825Ter)
NM_000379.4(XDH):c.2751dup (p.Pro918fs)
NM_000379.4(XDH):c.3507del (p.Gly1170fs) rs1558674294
NM_000379.4(XDH):c.3711del (p.Ile1238fs)
NM_000379.4(XDH):c.547C>T (p.Gln183Ter)
NM_000379.4(XDH):c.575C>A (p.Ser192Ter)
NM_000379.4(XDH):c.598G>T (p.Glu200Ter) rs2147994449
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000379.4(XDH):c.751C>T (p.Gln251Ter)
NM_017947.4(MOCOS):c.1037dup (p.Gln347fs) rs886037855
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs) rs761752580
NM_017947.4(MOCOS):c.1665dup (p.Pro556fs) rs2091474513
NM_017947.4(MOCOS):c.169G>C (p.Ala57Pro) rs886037854
NM_017947.4(MOCOS):c.1767_1768del (p.Tyr590fs)
NM_017947.4(MOCOS):c.1809G>A (p.Trp603Ter)
NM_017947.4(MOCOS):c.2268del (p.Ser757fs)
NM_017947.4(MOCOS):c.2376G>A (p.Trp792Ter)
NM_017947.4(MOCOS):c.42del (p.Phe15fs)

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