ClinVar Miner

List of variants in gene LOXHD1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP
NC_000018.10:g.46521135C>T
NM_001173129.1(LOXHD1):c.*18G>T rs727504587
NM_001173129.1(LOXHD1):c.*30G>A rs142931455
NM_144612.6(LOXHD1):c.*4G>A rs876657856
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1053G>A (p.Leu351=) rs140842472
NM_144612.6(LOXHD1):c.1061T>A (p.Leu354His) rs727503150
NM_144612.6(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657
NM_144612.6(LOXHD1):c.1089C>T (p.Val363=) rs578169078
NM_144612.6(LOXHD1):c.1134+11C>T rs727503149
NM_144612.6(LOXHD1):c.1134+12C>G rs1555684960
NM_144612.6(LOXHD1):c.1158T>G (p.Thr386=) rs727503148
NM_144612.6(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163
NM_144612.6(LOXHD1):c.1170G>A (p.Gln390=) rs876657492
NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175
NM_144612.6(LOXHD1):c.130+4C>A
NM_144612.6(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_144612.6(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859
NM_144612.6(LOXHD1):c.1431+10G>T rs57330753
NM_144612.6(LOXHD1):c.1443G>A (p.Pro481=) rs184747932
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.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.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.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621
NM_144612.6(LOXHD1):c.1752G>A (p.Thr584=) rs558087385
NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675
NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) rs116413527
NM_144612.6(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_144612.6(LOXHD1):c.1810-6C>A rs199804946
NM_144612.6(LOXHD1):c.1810-6C>G rs199804946
NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=) rs201388780
NM_144612.6(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) 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.1876G>T (p.Gly626Cys) rs34589386
NM_144612.6(LOXHD1):c.1887C>T (p.Ser629=) rs189550119
NM_144612.6(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_144612.6(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
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.1945G>A (p.Asp649Asn) rs141932807
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.2037G>A (p.Ala679=) rs201226222
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
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.2175C>T (p.Asn725=) rs2086005
NM_144612.6(LOXHD1):c.2223C>T (p.Leu741=) rs199595156
NM_144612.6(LOXHD1):c.2244+2T>G rs1555681351
NM_144612.6(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529
NM_144612.6(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858
NM_144612.6(LOXHD1):c.2303del (p.Gly768fs) rs727503146
NM_144612.6(LOXHD1):c.2307C>T (p.Ser769=) rs115658952
NM_144612.6(LOXHD1):c.2316C>T (p.Ile772=) rs876657493
NM_144612.6(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860
NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) rs34723936
NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250
NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) rs36086089
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084
NM_144612.6(LOXHD1):c.2580G>A (p.Ala860=) rs118140267
NM_144612.6(LOXHD1):c.2599-11C>T rs150139569
NM_144612.6(LOXHD1):c.2677G>A
NM_144612.6(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043
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.277G>A (p.Asp93Asn) rs747038125
NM_144612.6(LOXHD1):c.2816_2818AGA[3] (p.Lys942del) rs142960762
NM_144612.6(LOXHD1):c.2841C>T (p.Asp947=) rs761010290
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.2871G>A (p.Ser957=) rs181591912
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.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.2T>A (p.Met1Lys) rs36024592
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.3108C>T (p.Ala1036=) rs727503145
NM_144612.6(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_144612.6(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_144612.6(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144
NM_144612.6(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213
NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104
NM_144612.6(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.3279C>T (p.His1093=) rs751278435
NM_144612.6(LOXHD1):c.3282C>T (p.Asp1094=) rs1431897813
NM_144612.6(LOXHD1):c.3293A>G (p.Asn1098Ser) rs876657494
NM_144612.6(LOXHD1):c.3335T>C
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.3449A>G (p.Gln1150Arg) rs201576880
NM_144612.6(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142
NM_144612.6(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566
NM_144612.6(LOXHD1):c.3471C>T (p.Gly1157=) rs727503141
NM_144612.6(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860
NM_144612.6(LOXHD1):c.3619+9G>A
NM_144612.6(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_144612.6(LOXHD1):c.3654C>T
NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862
NM_144612.6(LOXHD1):c.3672C>T (p.Asp1224=) rs876657495
NM_144612.6(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278
NM_144612.6(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055
NM_144612.6(LOXHD1):c.3816G>A (p.Thr1272=) rs1031241585
NM_144612.6(LOXHD1):c.3846C>T (p.Asn1282=) rs759329010
NM_144612.6(LOXHD1):c.3855C>T (p.Asp1285=) rs876657496
NM_144612.6(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636
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.3999C>T (p.Cys1333=) rs117297079
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.4099G>T (p.Glu1367Ter) rs373937326
NM_144612.6(LOXHD1):c.4147A>G (p.Thr1383Ala) rs1182325987
NM_144612.6(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_144612.6(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978
NM_144612.6(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122
NM_144612.6(LOXHD1):c.4212+14T>G rs1555672903
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
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.4440G>A (p.Val1480=) rs76946640
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4497A>G (p.Ser1499=) rs876657497
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.4526G>A (p.Gly1509Glu) rs187587197
NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498
NM_144612.6(LOXHD1):c.458G>A
NM_144612.6(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302
NM_144612.6(LOXHD1):c.4671G>A (p.Leu1557=) rs763078543
NM_144612.6(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863
NM_144612.6(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072
NM_144612.6(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995
NM_144612.6(LOXHD1):c.4740+13G>T rs570127242
NM_144612.6(LOXHD1):c.4741-11C>G rs181095005
NM_144612.6(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
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.4842C>T (p.Thr1614=) rs779714173
NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417
NM_144612.6(LOXHD1):c.4877-3C>A rs876657861
NM_144612.6(LOXHD1):c.4923G>A (p.Ala1641=) rs761707142
NM_144612.6(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_144612.6(LOXHD1):c.4957G>C
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375
NM_144612.6(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
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+830C>T rs375851293
NM_144612.6(LOXHD1):c.5085+846_5085+858dup rs876657855
NM_144612.6(LOXHD1):c.5085+902C>T rs114736976
NM_144612.6(LOXHD1):c.5085+903A>T rs200930427
NM_144612.6(LOXHD1):c.5087T>A (p.Val1696Asp) rs727503139
NM_144612.6(LOXHD1):c.5103G>A (p.Thr1701=) rs727503138
NM_144612.6(LOXHD1):c.512-19TC[3] rs876657676
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.51C>T
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.5213+13G>A rs59128481
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.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.5503C>T (p.Leu1835=) rs202043044
NM_144612.6(LOXHD1):c.5506+12G>A rs200518261
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.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5667G>A (p.Lys1889=) rs201366522
NM_144612.6(LOXHD1):c.5682C>T (p.His1894=) rs114974101
NM_144612.6(LOXHD1):c.5725G>A (p.Asp1909Asn) rs727504544
NM_144612.6(LOXHD1):c.5725G>T (p.Asp1909Tyr) rs727504544
NM_144612.6(LOXHD1):c.5736C>A
NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys) rs79045813
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.5886G>A (p.Thr1962=) rs1376734175
NM_144612.6(LOXHD1):c.5896G>A
NM_144612.6(LOXHD1):c.5898C>T (p.Gly1966=) rs779218726
NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=) rs146200756
NM_144612.6(LOXHD1):c.5962A>G (p.Met1988Val) rs141749060
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.6082C>T (p.Arg2028Trp) rs569341831
NM_144612.6(LOXHD1):c.6083G>A
NM_144612.6(LOXHD1):c.6084G>A (p.Arg2028=) rs367833904
NM_144612.6(LOXHD1):c.6107C>T (p.Ala2036Val) rs1377016
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
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.6153T>C (p.Asn2051=) rs181548456
NM_144612.6(LOXHD1):c.6154G>A
NM_144612.6(LOXHD1):c.6156-15C>T rs1354633431
NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=) rs876657498
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.6276C>G (p.Val2092=) rs141737883
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.6386A>G
NM_144612.6(LOXHD1):c.6398G>A (p.Arg2133His) rs74316327
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.6524T>G (p.Val2175Gly) rs1555651054
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733
NM_144612.6(LOXHD1):c.6597G>A (p.Gly2199=) rs115835484
NM_144612.6(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781
NM_144612.6(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499
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.854A>G (p.Asp285Gly) rs1354495647
NM_144612.6(LOXHD1):c.87G>A
NM_144612.6(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744
NM_144612.6(LOXHD1):c.91G>C (p.Asp31His) rs876657862
NM_144612.6(LOXHD1):c.927G>T (p.Gly309=) rs749677224
NM_144612.6(LOXHD1):c.966G>C (p.Gly322=) rs114082868
NM_144612.6(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174

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