ClinVar Miner

List of variants in gene LOXHD1 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_144612.3(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.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043 0.00073
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163 0.00064
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
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.2580G>A (p.Ala860=) rs118140267 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001384474.1(LOXHD1):c.828C>T (p.Asp276=) rs200247093 0.00017
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.2640C>T (p.Leu880=) rs374614343 0.00015
NM_001384474.1(LOXHD1):c.2664G>A (p.Gly888=) rs773487745 0.00013
NM_001384474.1(LOXHD1):c.5097C>T (p.Asp1699=) rs375851293 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=) rs727503141 0.00009
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 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.6084C>T (p.Gly2028=) rs779218726 0.00007
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=) rs201226222 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.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 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.6050-15C>T rs397517864 0.00005
NM_001384474.1(LOXHD1):c.1071C>T (p.Pro357=) rs1391986865 0.00004
NM_001384474.1(LOXHD1):c.1654+10G>A rs1200519632 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 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.5289G>A (p.Thr1763=) rs727503138 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=) rs749677224 0.00004
NM_001384474.1(LOXHD1):c.2406G>A (p.Leu802=) rs1305236679 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.3293A>G (p.Asn1098Ser) rs876657494 0.00003
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=) rs1031241585 0.00003
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=) rs763078543 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=) rs578169078 0.00002
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=) rs184747932 0.00002
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=) rs876657493 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863 0.00002
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn) rs1020724757 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=) rs1487954570 0.00002
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=) rs727503145 0.00001
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=) rs876657495 0.00001
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=) rs876657497 0.00001
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=) rs1454767391 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.6269G>A (p.Arg2090Gln) rs760286647 0.00001
NM_001384474.1(LOXHD1):c.6342-15C>T rs1354633431 0.00001
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499 0.00001
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.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_001384474.1(LOXHD1):c.2448T>C (p.Tyr816=) rs1555680579
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=) rs1431897813
NM_001384474.1(LOXHD1):c.4212+14T>G rs1555672903
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=) rs761707142
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.512-5C>T rs1555686876
NM_001384474.1(LOXHD1):c.5911G>A (p.Asp1971Asn) rs727504544
NM_001384474.1(LOXHD1):c.6651C>T (p.Arg2217=) rs1057521570
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001384474.1(LOXHD1):c.717C>T (p.Gly239=) rs1555686141
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381

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