List of variants reported as benign for Xanthinuria type II

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_017947.4(MOCOS):c.475C>A (p.Arg159=)	rs646424	0.99420
NM_017947.4(MOCOS):c.550A>G (p.Ser184Gly)	rs540967	0.99215
NM_017947.4(MOCOS):c.674A>G (p.His225Arg)	rs623558	0.99207
NM_017947.4(MOCOS):c.1164A>G (p.Pro388=)	rs667667	0.99200
NM_017947.4(MOCOS):c.509C>T (p.Thr170Ile)	rs623053	0.90992
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.2211C>T (p.Ile737=)	rs2295475	0.24290
NM_017947.4(MOCOS):c.2107C>A (p.His703Asn)	rs594445	0.22874
NM_017947.4(MOCOS):c.2600T>C (p.Val867Ala)	rs1057251	0.10346
NM_017947.4(MOCOS):c.66C>A (p.Ser22Arg)	rs113873219	0.07041
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_017947.4(MOCOS):c.359G>A (p.Ser120Asn)	rs3744900	0.04153
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_017947.4(MOCOS):c.142+11C>A	rs141031604	0.01418
NM_017947.4(MOCOS):c.15G>A (p.Ala5=)	rs145568479	0.01199
NM_017947.4(MOCOS):c.2276A>G (p.Glu759Gly)	rs77772031	0.01073
NM_017947.4(MOCOS):c.2599G>A (p.Val867Met)	rs79823152	0.00979
NM_017947.4(MOCOS):c.1465C>T (p.Arg489Cys)	rs35980997	0.00937
NM_017947.4(MOCOS):c.981G>A (p.Ala327=)	rs35497696	0.00711
NM_017947.4(MOCOS):c.1992A>G (p.Glu664=)	rs55701019	0.00592
NM_017947.4(MOCOS):c.1062G>A (p.Gln354=)	rs141361512	0.00568
NM_000379.4(XDH):c.3375A>G (p.Thr1125=)	rs45592238	0.00556
NM_000379.4(XDH):c.1857-4G>A	rs17395175	0.00541
NM_000379.4(XDH):c.3405-15T>C	rs141728694	0.00516
NM_017947.4(MOCOS):c.1724T>C (p.Leu575Pro)	rs114735250	0.00499
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_017947.4(MOCOS):c.309G>A (p.Ala103=)	rs149639104	0.00391
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_017947.4(MOCOS):c.1309A>G (p.Asn437Asp)	rs35264715	0.00322
NM_017947.4(MOCOS):c.142+20T>C	rs373431975	0.00309
NM_017947.4(MOCOS):c.1539A>G (p.Ala513=)	rs76486529	0.00309
NM_000379.4(XDH):c.405C>T (p.Thr135=)	rs72549370	0.00299
NM_000379.4(XDH):c.495+15C>T	rs183572308	0.00280
NM_000379.4(XDH):c.1629C>T (p.Phe543=)	rs140651875	0.00250
NM_000379.4(XDH):c.1856+7G>A	rs184028774	0.00228
NM_000379.4(XDH):c.2634T>C (p.Ile878=)	rs146994573	0.00224
NM_017947.4(MOCOS):c.2270+17C>T	rs142380976	0.00215
NM_000379.4(XDH):c.882C>T (p.Pro294=)	rs138246330	0.00195
NM_000379.4(XDH):c.1427+15C>A	rs116569100	0.00186
NM_000379.4(XDH):c.2037A>C (p.Thr679=)	rs139998082	0.00129
NM_017947.4(MOCOS):c.1589C>T (p.Ser530Leu)	rs145294379	0.00115
NM_000379.4(XDH):c.636T>C (p.Phe212=)	rs140225517	0.00095
NM_017947.4(MOCOS):c.1908G>A (p.Leu636=)	rs147207715	0.00076
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr)	rs45547640	0.00060
NM_000379.4(XDH):c.1911C>T (p.Ser637=)	rs142197675	0.00058
NM_017947.4(MOCOS):c.941+20G>A	rs571989443	0.00047
NM_000379.4(XDH):c.793+19G>A	rs45625137	0.00043
NM_017947.4(MOCOS):c.1326G>A (p.Lys442=)	rs147875201	0.00043
NM_000379.4(XDH):c.670C>T (p.Arg224Trp)	rs147533056	0.00040
NM_000379.4(XDH):c.3771G>A (p.Ser1257=)	rs45594136	0.00028
NM_000379.4(XDH):c.1669G>A (p.Asp557Asn)	rs201792967	0.00026
NM_017947.4(MOCOS):c.363G>A (p.Thr121=)	rs376254012	0.00026
NM_000379.4(XDH):c.2794G>A (p.Ala932Thr)	rs141291583	0.00018
NM_017947.4(MOCOS):c.1798-19C>T	rs201335005	0.00014
NM_000379.4(XDH):c.1617G>T (p.Leu539=)	rs117399514	0.00013
NM_000379.4(XDH):c.3789G>A (p.Pro1263=)	rs202077714	0.00011
NM_000379.4(XDH):c.3148-17G>A	rs368920281	0.00007
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_017947.4(MOCOS):c.1425G>A (p.Leu475=)	rs531863176	0.00001
NM_000379.4(XDH):c.1663C>T (p.Pro555Ser)	rs45577338
NM_000379.4(XDH):c.1885G>A (p.Val629Ile)	rs148464316
NM_000379.4(XDH):c.1980+19del
NM_000379.4(XDH):c.2100+19_2100+22del	rs45446491
NM_000379.4(XDH):c.2592C>T (p.His864=)	rs368056609
NM_000379.4(XDH):c.2969+66dup	rs11408029
NM_000379.4(XDH):c.307-11G>A
NM_000379.4(XDH):c.3586-17C>T
NM_000379.4(XDH):c.3586-21_3586-20del	rs531981113
NM_000379.4(XDH):c.434-19dup	rs747562658
NM_000379.4(XDH):c.495+14C>T
NM_017947.4(MOCOS):c.1072G>A (p.Val358Met)	rs678560
NM_017947.4(MOCOS):c.142+16_142+19dup	rs780090086
NM_017947.4(MOCOS):c.143-21_143-13del	rs749356320
NM_017947.4(MOCOS):c.2039+17C>G	rs567458

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