ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 77 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.01931
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.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.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00456
NM_001384474.1(LOXHD1):c.*96G>A rs569671846 0.00415
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
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.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.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.*124A>G rs144543819 0.00185
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.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.1961C>T (p.Pro654Leu) rs369297699 0.00133
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.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.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.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
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.1716C>T (p.Asn572=) rs147582935 0.00047
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.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_001384474.1(LOXHD1):c.6731C>T (p.Thr2244Ile) rs561740845 0.00038
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.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp) rs200819355 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.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643 0.00026
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00026
NM_001384474.1(LOXHD1):c.*19C>T rs778387862 0.00023
NM_001384474.1(LOXHD1):c.*73A>T rs748582582 0.00023
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662 0.00023
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.1970+9G>A rs532438706 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3924C>T (p.Tyr1308=) rs184966970 0.00022
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00022
NM_001384474.1(LOXHD1):c.4877-15C>T rs138060208 0.00022
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001384474.1(LOXHD1):c.3013A>C (p.Asn1005His) rs552955487 0.00019
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922 0.00016
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00016
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00014
NM_001384474.1(LOXHD1):c.1303G>A (p.Asp435Asn) rs561064266 0.00013
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 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.3236A>G (p.Tyr1079Cys) rs367863703 0.00012
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu) rs776769626 0.00009
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826 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.2851G>A (p.Glu951Lys) rs138190875 0.00008
NM_001384474.1(LOXHD1):c.2327G>A (p.Arg776His) rs373559161 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001384474.1(LOXHD1):c.5772G>A (p.Ser1924=) rs375400056 0.00007
NM_001384474.1(LOXHD1):c.*94T>C rs181233520 0.00006
NM_001384474.1(LOXHD1):c.3165C>T (p.Gly1055=) rs768431469 0.00006
NM_001384474.1(LOXHD1):c.3847G>A (p.Glu1283Lys) rs373541883 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4389G>A (p.Ser1463=) rs375146333 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00005
NM_001384474.1(LOXHD1):c.2227A>G (p.Thr743Ala) rs759325484 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.1883G>A (p.Gly628Asp) rs138530758 0.00004
NM_001384474.1(LOXHD1):c.246-14C>T rs139812523 0.00004
NM_001384474.1(LOXHD1):c.3015C>T (p.Asn1005=) rs534756824 0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953 0.00004
NM_001384474.1(LOXHD1):c.3515-13A>G rs545297878 0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met) rs113591161 0.00004
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286 0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001384474.1(LOXHD1):c.2174A>G (p.Asn725Ser) rs141137527 0.00003
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.329T>C (p.Ile110Thr) rs556403714 0.00003
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys) rs185142131 0.00003
NM_001384474.1(LOXHD1):c.4690C>T (p.Leu1564Phe) rs573600473 0.00003
NM_001384474.1(LOXHD1):c.5931C>T (p.Arg1977=) rs748789925 0.00003
NM_001384474.1(LOXHD1):c.611-8G>A rs748870133 0.00003
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00003
NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His) rs886053822 0.00003
NM_001384474.1(LOXHD1):c.2237T>C (p.Ile746Thr) rs1230156672 0.00002
NM_001384474.1(LOXHD1):c.245+5G>A rs374277176 0.00002
NM_001384474.1(LOXHD1):c.3170G>A (p.Arg1057Gln) rs1275821062 0.00002
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277 0.00002
NM_001384474.1(LOXHD1):c.4481G>A (p.Arg1494Gln) rs949457669 0.00002
NM_001384474.1(LOXHD1):c.5929C>T (p.Arg1977Cys) rs886053824 0.00002
NM_001384474.1(LOXHD1):c.6170G>C (p.Arg2057Pro) rs939845241 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.1135-13C>T rs1171811821 0.00001
NM_001384474.1(LOXHD1):c.1500T>C (p.Ser500=) rs886053838 0.00001
NM_001384474.1(LOXHD1):c.1832C>T (p.Ser611Phe) rs1149438 0.00001
NM_001384474.1(LOXHD1):c.2047+15T>A rs1048096626 0.00001
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu) rs1008856721 0.00001
NM_001384474.1(LOXHD1):c.2386G>A (p.Gly796Arg) rs886053835 0.00001
NM_001384474.1(LOXHD1):c.2438-9C>A rs886053834 0.00001
NM_001384474.1(LOXHD1):c.2468G>C (p.Gly823Ala) rs886053833 0.00001
NM_001384474.1(LOXHD1):c.2516A>T (p.Tyr839Phe) rs752014328 0.00001
NM_001384474.1(LOXHD1):c.2648C>T (p.Thr883Met) rs186315227 0.00001
NM_001384474.1(LOXHD1):c.2704G>C (p.Val902Leu) rs756960512 0.00001
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.2882A>G (p.Glu961Gly) rs1023902108 0.00001
NM_001384474.1(LOXHD1):c.2907G>A (p.Glu969=) rs886053831 0.00001
NM_001384474.1(LOXHD1):c.3146A>G (p.Glu1049Gly) rs767265152 0.00001
NM_001384474.1(LOXHD1):c.3195C>T (p.Ser1065=) rs886053830 0.00001
NM_001384474.1(LOXHD1):c.3275G>A (p.Arg1092His) rs757280331 0.00001
NM_001384474.1(LOXHD1):c.3597C>G (p.Leu1199=) rs886053829 0.00001
NM_001384474.1(LOXHD1):c.3648A>G (p.Thr1216=) rs886053828 0.00001
NM_001384474.1(LOXHD1):c.391A>G (p.Met131Val) rs769960235 0.00001
NM_001384474.1(LOXHD1):c.4239C>T (p.Cys1413=) rs886053827 0.00001
NM_001384474.1(LOXHD1):c.5005G>C (p.Gly1669Arg) rs1169003694 0.00001
NM_001384474.1(LOXHD1):c.511+13G>C rs1265165427 0.00001
NM_001384474.1(LOXHD1):c.548T>C (p.Val183Ala) rs2038617630 0.00001
NM_001384474.1(LOXHD1):c.5722A>G (p.Ile1908Val) rs781097312 0.00001
NM_001384474.1(LOXHD1):c.572A>G (p.Asp191Gly) rs886053842 0.00001
NM_001384474.1(LOXHD1):c.580A>T (p.Ile194Phe) rs886053841 0.00001
NM_001384474.1(LOXHD1):c.5T>C (p.Met2Thr) rs761525328 0.00001
NM_001384474.1(LOXHD1):c.613G>A (p.Glu205Lys) rs958186869 0.00001
NM_001384474.1(LOXHD1):c.6458C>T (p.Pro2153Leu) rs1568061614 0.00001
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381 0.00001
NM_001384474.1(LOXHD1):c.821C>T (p.Ala274Val) rs886053840 0.00001
NM_001384474.1(LOXHD1):c.1191G>T (p.Trp397Cys) rs201033524
NM_001384474.1(LOXHD1):c.1323C>A (p.Thr441=) rs1599035715
NM_001384474.1(LOXHD1):c.1380C>G (p.Leu460=) rs750264813
NM_001384474.1(LOXHD1):c.1459T>C (p.Tyr487His) rs886053839
NM_001384474.1(LOXHD1):c.1680C>T (p.Cys560=) rs2037927966
NM_001384474.1(LOXHD1):c.1714A>C (p.Asn572His) rs886053837
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met) rs747842788
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.1873G>A (p.Asp625Asn) rs2063664738
NM_001384474.1(LOXHD1):c.1875T>C (p.Asp625=) rs886053836
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.197C>T (p.Thr66Met) rs199536893
NM_001384474.1(LOXHD1):c.2096G>T (p.Ser699Ile) rs755207410
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2708T>C (p.Val903Ala) rs375940400
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro) rs140904207
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3914-3C>T rs2036407024
NM_001384474.1(LOXHD1):c.4136G>A (p.Gly1379Asp) rs756242236
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4519G>A (p.Glu1507Lys) rs752123459
NM_001384474.1(LOXHD1):c.4743G>A (p.Glu1581=) rs886053826
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.5272G>A (p.Val1758Ile) rs535485519
NM_001384474.1(LOXHD1):c.5272G>T (p.Val1758Phe) rs535485519
NM_001384474.1(LOXHD1):c.5498C>G (p.Pro1833Arg) rs772058659
NM_001384474.1(LOXHD1):c.5891G>T (p.Gly1964Val) rs771725391
NM_001384474.1(LOXHD1):c.6050-14C>T rs886053823
NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=) rs528843705
NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro) rs753209859

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