ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP
NM_001173129.1(LOXHD1):c.*18G>T rs727504587
NM_144612.6(LOXHD1):c.*124A>G rs144543819
NM_144612.6(LOXHD1):c.*19C>T rs778387862
NM_144612.6(LOXHD1):c.*4G>A rs876657856
NM_144612.6(LOXHD1):c.*73A>T rs748582582
NM_144612.6(LOXHD1):c.*96G>A rs569671846
NM_144612.6(LOXHD1):c.1061T>A (p.Leu354His) rs727503150
NM_144612.6(LOXHD1):c.1191G>T (p.Trp397Cys) rs201033524
NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175
NM_144612.6(LOXHD1):c.130+4C>A
NM_144612.6(LOXHD1):c.1303G>A (p.Asp435Asn) rs561064266
NM_144612.6(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_144612.6(LOXHD1):c.1431+10G>T rs57330753
NM_144612.6(LOXHD1):c.1459T>C (p.Tyr487His) rs886053839
NM_144612.6(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860
NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197
NM_144612.6(LOXHD1):c.1500T>C (p.Ser500=) rs886053838
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) rs187658135
NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227
NM_144612.6(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922
NM_144612.6(LOXHD1):c.1640G>A (p.Arg547His) rs184173766
NM_144612.6(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838
NM_144612.6(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150
NM_144612.6(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786
NM_144612.6(LOXHD1):c.1714A>C (p.Asn572His) rs886053837
NM_144612.6(LOXHD1):c.1716C>T (p.Asn572=) rs147582935
NM_144612.6(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662
NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675
NM_144612.6(LOXHD1):c.176C>T (p.Thr59Met) rs374871163
NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) rs116413527
NM_144612.6(LOXHD1):c.1810-6C>A rs199804946
NM_144612.6(LOXHD1):c.1810-6C>G rs199804946
NM_144612.6(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788
NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_144612.6(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082
NM_144612.6(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735
NM_144612.6(LOXHD1):c.1875T>C (p.Asp625=) rs886053836
NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386
NM_144612.6(LOXHD1):c.1879A>C (p.Lys627Gln) rs1131691796
NM_144612.6(LOXHD1):c.1887C>T (p.Ser629=) rs189550119
NM_144612.6(LOXHD1):c.1893C>T (p.Ser631=) rs375920647
NM_144612.6(LOXHD1):c.1912G>A (p.Val638Met) rs876657854
NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) rs369039902
NM_144612.6(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699
NM_144612.6(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893
NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578
NM_144612.6(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762
NM_144612.6(LOXHD1):c.2100G>A (p.Thr700=) rs367826075
NM_144612.6(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859
NM_144612.6(LOXHD1):c.2158_2160CTT[1] (p.Leu721del) rs1555681376
NM_144612.6(LOXHD1):c.2204G>A (p.Arg735Gln) rs1393552738
NM_144612.6(LOXHD1):c.2227A>G (p.Thr743Ala) rs759325484
NM_144612.6(LOXHD1):c.2245-13G>A rs749554659
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858
NM_144612.6(LOXHD1):c.231C>T (p.Leu77=) rs200306249
NM_144612.6(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860
NM_144612.6(LOXHD1):c.2353G>A (p.Ala785Thr) rs886042940
NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) rs34723936
NM_144612.6(LOXHD1):c.2386G>A (p.Gly796Arg) rs886053835
NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250
NM_144612.6(LOXHD1):c.2438-9C>A rs886053834
NM_144612.6(LOXHD1):c.245+5G>A rs374277176
NM_144612.6(LOXHD1):c.246-14C>T rs139812523
NM_144612.6(LOXHD1):c.2468G>C (p.Gly823Ala) rs886053833
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.2516A>T (p.Tyr839Phe) rs752014328
NM_144612.6(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084
NM_144612.6(LOXHD1):c.2648C>T (p.Thr883Met) rs186315227
NM_144612.6(LOXHD1):c.2677G>A
NM_144612.6(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_144612.6(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_144612.6(LOXHD1):c.2728C>G
NM_144612.6(LOXHD1):c.274G>A (p.Val92Ile) rs115275492
NM_144612.6(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832
NM_144612.6(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125
NM_144612.6(LOXHD1):c.2813G>A (p.Arg938Lys) rs386352326
NM_144612.6(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826
NM_144612.6(LOXHD1):c.2851G>A (p.Glu951Lys) rs138190875
NM_144612.6(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604
NM_144612.6(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861
NM_144612.6(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_144612.6(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400
NM_144612.6(LOXHD1):c.2907G>A (p.Glu969=) rs886053831
NM_144612.6(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521
NM_144612.6(LOXHD1):c.2916_2924AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_144612.6(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981
NM_144612.6(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3061+8G>T rs764128579
NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614
NM_144612.6(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_144612.6(LOXHD1):c.3165C>T (p.Gly1055=) rs768431469
NM_144612.6(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213
NM_144612.6(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229
NM_144612.6(LOXHD1):c.3195C>T (p.Ser1065=) rs886053830
NM_144612.6(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519
NM_144612.6(LOXHD1):c.3236A>G (p.Tyr1079Cys) rs367863703
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.329T>C (p.Ile110Thr) rs556403714
NM_144612.6(LOXHD1):c.3335T>C
NM_144612.6(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513
NM_144612.6(LOXHD1):c.3412G>A (p.Glu1138Lys) rs1230147513
NM_144612.6(LOXHD1):c.3426G>A (p.Val1142=) rs200068167
NM_144612.6(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143
NM_144612.6(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142
NM_144612.6(LOXHD1):c.3597C>G (p.Leu1199=) rs886053829
NM_144612.6(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_144612.6(LOXHD1):c.3648A>G (p.Thr1216=) rs886053828
NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862
NM_144612.6(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278
NM_144612.6(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_144612.6(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055
NM_144612.6(LOXHD1):c.382G>C (p.Val128Leu)
NM_144612.6(LOXHD1):c.3847G>A (p.Glu1283Lys) rs373541883
NM_144612.6(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636
NM_144612.6(LOXHD1):c.3924C>T (p.Tyr1308=) rs184966970
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538
NM_144612.6(LOXHD1):c.3951C>A (p.Val1317=) rs779507390
NM_144612.6(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982
NM_144612.6(LOXHD1):c.4000G>A (p.Asp1334Asn) rs1555673818
NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055
NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337
NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061
NM_144612.6(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_144612.6(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277
NM_144612.6(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_144612.6(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643
NM_144612.6(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122
NM_144612.6(LOXHD1):c.4202C>T (p.Pro1401Leu) rs377530294
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.4239C>T (p.Cys1413=) rs886053827
NM_144612.6(LOXHD1):c.4240G>T
NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859
NM_144612.6(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140
NM_144612.6(LOXHD1):c.4349A>G (p.Tyr1450Cys) rs1416571809
NM_144612.6(LOXHD1):c.4376-6G>A rs369463541
NM_144612.6(LOXHD1):c.4423G>T (p.Gly1475Trp) rs779091317
NM_144612.6(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286
NM_144612.6(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051
NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750
NM_144612.6(LOXHD1):c.4525G>A (p.Gly1509Arg) rs727505320
NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498
NM_144612.6(LOXHD1):c.458G>A
NM_144612.6(LOXHD1):c.4609T>C (p.Cys1537Arg) rs886044147
NM_144612.6(LOXHD1):c.4690C>T (p.Leu1564Phe) rs573600473
NM_144612.6(LOXHD1):c.4741-11C>G rs181095005
NM_144612.6(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
NM_144612.6(LOXHD1):c.4743G>A (p.Glu1581=) rs886053826
NM_144612.6(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976
NM_144612.6(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.4824C>G (p.Val1608=) rs114557260
NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417
NM_144612.6(LOXHD1):c.4877-3C>A rs876657861
NM_144612.6(LOXHD1):c.4934_4935delinsAA (p.Ser1645Lys) rs1568133169
NM_144612.6(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_144612.6(LOXHD1):c.4957G>C
NM_144612.6(LOXHD1):c.4972C>T (p.Arg1658Cys) rs377416999
NM_144612.6(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338
NM_144612.6(LOXHD1):c.5047G>A (p.Val1683Ile) rs571616553
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
NM_144612.6(LOXHD1):c.5085+1G>A rs1418245706
NM_144612.6(LOXHD1):c.5085+6G>A rs373466081
NM_144612.6(LOXHD1):c.5085+822G>A rs876657853
NM_144612.6(LOXHD1):c.5085+828G>A rs727504848
NM_144612.6(LOXHD1):c.5085+846_5085+858dup rs876657855
NM_144612.6(LOXHD1):c.5085+848_5085+860dup rs1555669048
NM_144612.6(LOXHD1):c.5085+903A>T rs200930427
NM_144612.6(LOXHD1):c.5087T>A (p.Val1696Asp) rs727503139
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5128G>A (p.Gly1710Arg) rs775186197
NM_144612.6(LOXHD1):c.5171A>G (p.Asn1724Ser) rs192929296
NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) rs370816148
NM_144612.6(LOXHD1):c.5204A>G (p.Lys1735Arg) rs368286192
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5214-7C>G rs376131738
NM_144612.6(LOXHD1):c.5224G>A (p.Glu1742Lys) rs200242497
NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser) rs775871086
NM_144612.6(LOXHD1):c.5312C>G (p.Pro1771Arg) rs772058659
NM_144612.6(LOXHD1):c.5328G>A (p.Glu1776=) rs749182319
NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) rs201994383
NM_144612.6(LOXHD1):c.5437G>A (p.Val1813Ile) rs367623969
NM_144612.6(LOXHD1):c.5506+12G>A rs200518261
NM_144612.6(LOXHD1):c.5526C>T (p.Asn1842=)
NM_144612.6(LOXHD1):c.5545G>A (p.Gly1849Arg) rs780560784
NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) rs727504988
NM_144612.6(LOXHD1):c.5581C>G (p.Gln1861Glu)
NM_144612.6(LOXHD1):c.5585C>T (p.Ser1862Leu) rs886053825
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5618C>T (p.Thr1873Met)
NM_144612.6(LOXHD1):c.5723T>A (p.Val1908Asp)
NM_144612.6(LOXHD1):c.5725G>T (p.Asp1909Tyr) rs727504544
NM_144612.6(LOXHD1):c.572A>G (p.Asp191Gly) rs886053842
NM_144612.6(LOXHD1):c.5736C>A
NM_144612.6(LOXHD1):c.5743C>T (p.Arg1915Cys) rs886053824
NM_144612.6(LOXHD1):c.5799C>T (p.Asp1933=) rs559560065
NM_144612.6(LOXHD1):c.5807C>T (p.Thr1936Met) rs538782734
NM_144612.6(LOXHD1):c.580A>T (p.Ile194Phe) rs886053841
NM_144612.6(LOXHD1):c.5864-14C>T rs886053823
NM_144612.6(LOXHD1):c.5864-15C>T rs397517864
NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) rs373848470
NM_144612.6(LOXHD1):c.5882A>G
NM_144612.6(LOXHD1):c.5885C>T (p.Thr1962Met) rs369043488
NM_144612.6(LOXHD1):c.5896G>A
NM_144612.6(LOXHD1):c.5962A>G (p.Met1988Val) rs141749060
NM_144612.6(LOXHD1):c.5T>C (p.Met2Thr) rs761525328
NM_144612.6(LOXHD1):c.6011C>T (p.Thr2004Met) rs368303635
NM_144612.6(LOXHD1):c.601G>A (p.Gly201Arg) rs727504992
NM_144612.6(LOXHD1):c.6043A>T (p.Ile2015Phe) rs563899816
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.6066C>T (p.His2022=) rs753440039
NM_144612.6(LOXHD1):c.6082C>T (p.Arg2028Trp) rs569341831
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
NM_144612.6(LOXHD1):c.611-8G>A rs748870133
NM_144612.6(LOXHD1):c.6128C>A (p.Thr2043Asn) rs1555653083
NM_144612.6(LOXHD1):c.6136G>A
NM_144612.6(LOXHD1):c.6147C>T (p.Tyr2049=) rs374858340
NM_144612.6(LOXHD1):c.6154G>A
NM_144612.6(LOXHD1):c.6193_6198AGGAAG[3] (p.2065_2066RK[3]) rs1555651404
NM_144612.6(LOXHD1):c.621G>C (p.Arg207Ser) rs200328459
NM_144612.6(LOXHD1):c.6274G>A (p.Val2092Ile) rs182149228
NM_144612.6(LOXHD1):c.6276C>G (p.Val2092=) rs141737883
NM_144612.6(LOXHD1):c.6311C>G (p.Pro2104Arg) rs200198786
NM_144612.6(LOXHD1):c.6330C>T (p.Ala2110=) rs886042223
NM_144612.6(LOXHD1):c.6338T>C (p.Phe2113Ser) rs546735322
NM_144612.6(LOXHD1):c.6353G>A (p.Gly2118Glu) rs763915229
NM_144612.6(LOXHD1):c.6361G>A (p.Gly2121Arg) rs943633635
NM_144612.6(LOXHD1):c.6386A>G
NM_144612.6(LOXHD1):c.6409G>A (p.Glu2137Lys) rs376559755
NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) rs148468627
NM_144612.6(LOXHD1):c.6454G>A (p.Gly2152Ser) rs769490340
NM_144612.6(LOXHD1):c.6473G>A (p.Arg2158His) rs886053822
NM_144612.6(LOXHD1):c.6524T>G (p.Val2175Gly) rs1555651054
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733
NM_144612.6(LOXHD1):c.6557C>T (p.Thr2186Ile) rs779935366
NM_144612.6(LOXHD1):c.6626C>T (p.Pro2209Leu) rs950165733
NM_144612.6(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781
NM_144612.6(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513
NM_144612.6(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_144612.6(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915
NM_144612.6(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151
NM_144612.6(LOXHD1):c.821C>T (p.Ala274Val) rs886053840
NM_144612.6(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647
NM_144612.6(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670
NM_144612.6(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744
NM_144612.6(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187
NM_144612.6(LOXHD1):c.91G>C (p.Asp31His) rs876657862

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