ClinVar Miner

List of variants reported as benign for Hereditary xanthinuria type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725 0.77423
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3052-12C>G rs13415401 0.74590
NM_000379.4(XDH):c.1243-43A>G rs10187719 0.73983
NM_000379.4(XDH):c.*1477A>G rs6710015 0.43278
NM_000379.4(XDH):c.*518A>G rs1042039 0.40737
NM_000379.4(XDH):c.*1516C>T rs1054889 0.40251
NM_000379.4(XDH):c.*1555G>T rs6752058 0.26925
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475 0.24290
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440 0.05236
NM_000379.4(XDH):c.*1081A>G rs45488100 0.03374
NM_000379.4(XDH):c.*41G>C rs45593434 0.03354
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032 0.02778
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.1686+8C>T rs17395224 0.02225
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.1509C>G (p.Gly503=) rs45612839 0.01566
NM_000379.4(XDH):c.1329G>A (p.Lys443=) rs45471294 0.01418
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
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.1629C>T (p.Phe543=) rs140651875 0.00250
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr) rs45547640 0.00060
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) rs201301387 0.00005
NM_000379.4(XDH):c.2013G>A (p.Val671=) rs200635805 0.00005
NM_000379.4(XDH):c.1885G>A (p.Val629Ile) rs148464316
NM_000379.4(XDH):c.2100+19_2100+22del rs45446491
NM_000379.4(XDH):c.2544+35A>T rs2365842
NM_000379.4(XDH):c.2969+66dup rs11408029

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.