ClinVar Miner

List of variants in gene LOXHD1 studied for not specified

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 314
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09034
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07033
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06969
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_001384474.1(LOXHD1):c.4531-19C>T rs117403100 0.02571
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.01931
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01099
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00715
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00630
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00527
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00456
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_001384474.1(LOXHD1):c.1053G>A (p.Leu351=) rs140842472 0.00376
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00339
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00334
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00330
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00307
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00296
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00283
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=) rs115658952 0.00271
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00227
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00203
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00172
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00160
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00145
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00123
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00119
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00118
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg) rs142931455 0.00112
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00085
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00075
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043 0.00070
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163 0.00060
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00057
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys) rs201536647 0.00048
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00040
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00038
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00034
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00034
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00034
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00033
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00026
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=) rs118140267 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00023
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00022
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00022
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00022
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.828C>T (p.Asp276=) rs200247093 0.00016
NM_001384474.1(LOXHD1):c.2640C>T (p.Leu880=) rs374614343 0.00015
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00015
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00014
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00013
NM_001384474.1(LOXHD1):c.5097C>T (p.Asp1699=) rs375851293 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00013
NM_001384474.1(LOXHD1):c.2664G>A (p.Gly888=) rs773487745 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00011
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=) rs727503141 0.00009
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00007
NM_001384474.1(LOXHD1):c.2599-12C>T rs892676326 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00007
NM_001384474.1(LOXHD1):c.3846C>T (p.Asn1282=) rs759329010 0.00007
NM_001384474.1(LOXHD1):c.4842C>T (p.Thr1614=) rs779714173 0.00007
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00007
NM_001384474.1(LOXHD1):c.6084C>T (p.Gly2028=) rs779218726 0.00007
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=) rs201226222 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4741-11C>G rs181095005 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=) rs184747932 0.00005
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00005
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00005
NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala) rs1182325987 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001384474.1(LOXHD1):c.1071C>T (p.Pro357=) rs1391986865 0.00004
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001384474.1(LOXHD1):c.3855C>T (p.Asp1285=) rs876657496 0.00004
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384474.1(LOXHD1):c.5289G>A (p.Thr1763=) rs727503138 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=) rs578169078 0.00003
NM_001384474.1(LOXHD1):c.1752G>A (p.Thr584=) rs558087385 0.00003
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.2406G>A (p.Leu802=) rs1305236679 0.00003
NM_001384474.1(LOXHD1):c.2695C>T (p.Arg899Trp) rs769584753 0.00003
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.3293A>G (p.Asn1098Ser) rs876657494 0.00003
NM_001384474.1(LOXHD1):c.3808T>C (p.Cys1270Arg) rs140776419 0.00003
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=) rs1031241585 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=) rs763078543 0.00003
NM_001384474.1(LOXHD1):c.5170A>T (p.Met1724Leu) rs200930427 0.00003
NM_001384474.1(LOXHD1):c.5794C>T (p.Arg1932Trp) rs752703586 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 0.00003
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.2970C>G (p.His990Gln) rs868364225 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.4548C>T (p.Ile1516=) rs1265256564 0.00002
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863 0.00002
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) rs922663658 0.00002
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn) rs1020724757 0.00002
NM_001384474.1(LOXHD1):c.5682C>T (p.Ser1894=) rs567349358 0.00002
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=) rs1487954570 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NC_000018.10:g.46477200C>A rs727504587 0.00001
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1654+10G>A rs1200519632 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=) rs876657493 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=) rs727503145 0.00001
NM_001384474.1(LOXHD1):c.3412G>A (p.Glu1138Lys) rs1230147513 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=) rs876657495 0.00001
NM_001384474.1(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055 0.00001
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00001
NM_001384474.1(LOXHD1):c.4000G>A (p.Asp1334Asn) rs1555673818 0.00001
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4349A>G (p.Tyr1450Cys) rs1416571809 0.00001
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=) rs876657497 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp) rs1459136471 0.00001
NM_001384474.1(LOXHD1):c.5089G>A (p.Gly1697Ser) rs876657853 0.00001
NM_001384474.1(LOXHD1):c.5095G>A (p.Asp1699Asn) rs727504848 0.00001
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=) rs1454767391 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.5930G>A (p.Arg1977His) rs1456219036 0.00001
NM_001384474.1(LOXHD1):c.6049+4T>C rs1433790197 0.00001
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00001
NM_001384474.1(LOXHD1):c.6072G>A (p.Thr2024=) rs1376734175 0.00001
NM_001384474.1(LOXHD1):c.6112C>T (p.Leu2038=) rs1272576323 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384474.1(LOXHD1):c.6269G>A (p.Arg2090Gln) rs760286647 0.00001
NM_001384474.1(LOXHD1):c.6340G>A (p.Val2114Met) rs1336623338 0.00001
NM_001384474.1(LOXHD1):c.6342-15C>T rs1354633431 0.00001
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00001
NM_001384474.1(LOXHD1):c.6572A>G (p.Lys2191Arg) rs1410560877 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499 0.00001
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381 0.00001
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=) rs749677224 0.00001
NC_000018.9:g.(44181431_44184068)_(44198254_44219578)dup
NC_000018.9:g.(44222000_44229117)_(44236997_?)dup
NM_001384474.1(LOXHD1):c.1134+11C>T rs727503149
NM_001384474.1(LOXHD1):c.1134+12C>G rs1555684960
NM_001384474.1(LOXHD1):c.1158T>G (p.Thr386=) rs727503148
NM_001384474.1(LOXHD1):c.1170G>A (p.Gln390=) rs876657492
NM_001384474.1(LOXHD1):c.130+4C>A rs1024865273
NM_001384474.1(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_001384474.1(LOXHD1):c.134A>C (p.Tyr45Ser)
NM_001384474.1(LOXHD1):c.1419C>G (p.Ile473Met) rs545358723
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro) rs1051629865
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860
NM_001384474.1(LOXHD1):c.2448T>C (p.Tyr816=) rs1555680579
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=) rs1431897813
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.3834G>C (p.Trp1278Cys) rs2511712372
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4095+4C>G
NM_001384474.1(LOXHD1):c.4129C>T (p.Arg1377Trp) rs746252931
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.4212+14T>G rs1555672903
NM_001384474.1(LOXHD1):c.4240G>T (p.Asp1414Tyr) rs750155249
NM_001384474.1(LOXHD1):c.4423G>T (p.Gly1475Trp) rs779091317
NM_001384474.1(LOXHD1):c.4519G>A (p.Glu1507Lys) rs752123459
NM_001384474.1(LOXHD1):c.4525G>A (p.Gly1509Arg) rs727505320
NM_001384474.1(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4877-3C>A rs876657861
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=) rs761707142
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.5028C>T (p.Gly1676=) rs865871778
NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=) rs1265155697
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs) rs876657855
NM_001384474.1(LOXHD1):c.512-19TC[3] rs876657676
NM_001384474.1(LOXHD1):c.512-5C>T rs1555686876
NM_001384474.1(LOXHD1):c.5911G>A (p.Asp1971Asn) rs727504544
NM_001384474.1(LOXHD1):c.5922C>A (p.Asp1974Glu) rs1598827375
NM_001384474.1(LOXHD1):c.601G>A (p.Gly201Arg) rs727504992
NM_001384474.1(LOXHD1):c.6049+6T>C
NM_001384474.1(LOXHD1):c.6052T>C (p.Tyr2018His) rs2511374880
NM_001384474.1(LOXHD1):c.6119G>A (p.Gly2040Asp)
NM_001384474.1(LOXHD1):c.621G>C (p.Arg207Ser) rs200328459
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6341+4T>G rs1396802757
NM_001384474.1(LOXHD1):c.6379AGGAAG[3] (p.2127RK[3]) rs1555651404
NM_001384474.1(LOXHD1):c.6651C>T (p.Arg2217=) rs1057521570
NM_001384474.1(LOXHD1):c.6710T>G (p.Val2237Gly) rs1555651054
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001384474.1(LOXHD1):c.717C>T (p.Gly239=) rs1555686141

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