ClinVar Miner

List of variants reported as likely benign for Hereditary xanthinuria type 1

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.*878T>C rs45532535 0.01583
NM_000379.4(XDH):c.-66G>C rs36208390 0.01351
NM_000379.4(XDH):c.1857-4G>A rs17395175 0.00541
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693 0.00492
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716 0.00485
NM_000379.4(XDH):c.3951+14C>G rs201055814 0.00484
NM_000379.4(XDH):c.397G>A (p.Glu133Lys) rs45447191 0.00362
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033 0.00328
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) rs45442092 0.00254
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875 0.00250
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) rs73922346 0.00193
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000379.4(XDH):c.101-7C>T rs113007282 0.00069
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) rs142335345 0.00068
NM_000379.4(XDH):c.*912A>T rs45456093 0.00067
NM_000379.4(XDH):c.1911C>T (p.Ser637=) rs142197675 0.00058
NM_000379.4(XDH):c.192G>T (p.Lys64Asn) rs182317768 0.00046
NM_000379.4(XDH):c.793+19G>A rs45625137 0.00043
NM_000379.4(XDH):c.*570G>C rs117803955 0.00034
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_000379.4(XDH):c.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_000379.4(XDH):c.1617G>T (p.Leu539=) rs117399514 0.00013
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) rs202077714 0.00011
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001
NM_000379.4(XDH):c.*193G>A rs147693897
NM_000379.4(XDH):c.*193G>T rs147693897
NM_000379.4(XDH):c.1885G>A (p.Val629Ile) rs148464316

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