ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 356
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_003701.4(TNFSF11):c.*745T>C rs12721444 0.00615
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) rs200121871 0.00316
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00228
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00129
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00110
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_014028.4(OSTM1):c.*3060G>A rs563889052 0.00092
NM_014028.4(OSTM1):c.*2371G>A rs865891537 0.00089
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00052
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_014028.4(OSTM1):c.*168T>G rs571193624 0.00047
NM_003701.4(TNFSF11):c.-141C>T rs45468495 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) rs146289365 0.00041
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_014028.4(OSTM1):c.*2145A>T rs147517615 0.00031
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 0.00029
NM_006019.4(TCIRG1):c.1673+13G>A rs372404641 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_014028.4(OSTM1):c.*1205C>G rs145514255 0.00029
NM_014028.4(OSTM1):c.*147G>T rs117394334 0.00029
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly) rs546399681 0.00028
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) rs146484645 0.00024
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_014028.4(OSTM1):c.*3186T>C rs562003144 0.00024
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_006019.4(TCIRG1):c.1709C>T (p.Thr570Met) rs61730880 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_014028.4(OSTM1):c.*2799A>G rs747305519 0.00022
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_014028.4(OSTM1):c.*1085T>G rs543280303 0.00021
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_014028.4(OSTM1):c.*1166A>G rs557667717 0.00018
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_014028.4(OSTM1):c.*2035A>G rs548119179 0.00016
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) rs565610194 0.00015
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00014
NM_003701.4(TNFSF11):c.*159G>A rs186999111 0.00013
NM_014028.4(OSTM1):c.*2277G>A rs778098156 0.00013
NM_014028.4(OSTM1):c.*432T>G rs369418567 0.00013
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_014028.4(OSTM1):c.*2195T>G rs924418376 0.00012
NM_003701.4(TNFSF11):c.*357C>T rs192340175 0.00011
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_006019.4(TCIRG1):c.1042G>A (p.Val348Met) rs146023337 0.00009
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.574G>A (p.Gly192Ser) rs371658110 0.00009
NM_006019.4(TCIRG1):c.904G>A (p.Val302Met) rs540235063 0.00009
NM_014028.4(OSTM1):c.*751C>T rs925420631 0.00009
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00008
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_014028.4(OSTM1):c.*953C>T rs886060968 0.00008
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_003701.4(TNFSF11):c.*754A>C rs924942406 0.00006
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00006
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00006
NM_003701.4(TNFSF11):c.*667A>G rs12584726 0.00005
NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) rs746313384 0.00005
NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) rs201151635 0.00005
NM_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_014028.4(OSTM1):c.*1634A>G rs886060964 0.00005
NM_014028.4(OSTM1):c.-67G>T rs532210400 0.00005
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_006019.4(TCIRG1):c.-4-3C>T rs200201422 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=) rs370572421 0.00004
NM_014028.4(OSTM1):c.*3256A>G rs528019563 0.00004
NM_014028.4(OSTM1):c.*835G>T rs528945967 0.00004
NM_014028.4(OSTM1):c.67C>T (p.Leu23=) rs886060973 0.00004
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) rs752132846 0.00004
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_003701.4(TNFSF11):c.*554A>G rs200749870 0.00003
NM_003701.4(TNFSF11):c.-64C>G rs886050251 0.00003
NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) rs775866494 0.00003
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_006019.4(TCIRG1):c.1165+9C>T rs886048597 0.00003
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=) rs772355396 0.00003
NM_014028.4(OSTM1):c.*177A>G rs886060971 0.00003
NM_014028.4(OSTM1):c.*2769G>T rs998848985 0.00003
NM_014028.4(OSTM1):c.*2773G>A rs886060959 0.00003
NM_014028.4(OSTM1):c.*2990T>C rs376154345 0.00003
NM_014028.4(OSTM1):c.325G>A (p.Val109Met) rs1456427265 0.00003
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) rs779371056 0.00002
NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) rs199769531 0.00002
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_006019.4(TCIRG1):c.1165+11C>T rs745876497 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1294G>A (p.Ala432Thr) rs772440359 0.00002
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=) rs1436170727 0.00002
NM_006019.4(TCIRG1):c.869C>T (p.Pro290Leu) rs886048596 0.00002
NM_014028.4(OSTM1):c.*1844T>G rs1270573422 0.00002
NM_014028.4(OSTM1):c.279C>T (p.Asn93=) rs542761263 0.00002
NM_014028.4(OSTM1):c.558A>G (p.Thr186=) rs150309395 0.00002
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_003701.4(TNFSF11):c.*113G>A rs886050253 0.00001
NM_003701.4(TNFSF11):c.*152A>G rs886050254 0.00001
NM_003701.4(TNFSF11):c.-104C>T rs1873181204 0.00001
NM_003701.4(TNFSF11):c.-4C>T rs781185506 0.00001
NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) rs201389502 0.00001
NM_003701.4(TNFSF11):c.533-8C>T rs1869458758 0.00001
NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) rs61761332 0.00001
NM_003839.4(TNFRSF11A):c.*2086G>A rs528958493 0.00001
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.-22G>T rs1273385769 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) rs369418441 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1417C>T (p.Pro473Ser) rs750456593 0.00001
NM_006019.4(TCIRG1):c.1508A>G (p.Asn503Ser) rs369803798 0.00001
NM_006019.4(TCIRG1):c.1540T>A (p.Phe514Ile) rs776489478 0.00001
NM_006019.4(TCIRG1):c.1887+10G>A rs1241903068 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2071T>C (p.Ser691Pro) rs772173081 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2119-13A>T rs886048600 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.504-12C>T rs1263185890 0.00001
NM_006019.4(TCIRG1):c.571C>T (p.Arg191Cys) rs867224433 0.00001
NM_006019.4(TCIRG1):c.745C>A (p.Gln249Lys) rs751988410 0.00001
NM_014028.4(OSTM1):c.*1023A>G rs886060967 0.00001
NM_014028.4(OSTM1):c.*1045T>C rs1175025828 0.00001
NM_014028.4(OSTM1):c.*1399T>A rs886060966 0.00001
NM_014028.4(OSTM1):c.*1455C>T rs528241865 0.00001
NM_014028.4(OSTM1):c.*1469G>A rs886060965 0.00001
NM_014028.4(OSTM1):c.*872T>C rs748365107 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.508-7G>A rs886063149
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973
NM_003701.4(TNFSF11):c.*119C>T rs200387399
NM_003701.4(TNFSF11):c.*221G>C rs1315042884
NM_003701.4(TNFSF11):c.*242A>G rs1594485076
NM_003701.4(TNFSF11):c.*261G>A rs995293287
NM_003701.4(TNFSF11):c.*94T>G rs886050252
NM_003701.4(TNFSF11):c.-147C>T rs1873177411
NM_003701.4(TNFSF11):c.-74C>T rs569615616
NM_003701.4(TNFSF11):c.-7G>C rs998463381
NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) rs199910582
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) rs199529587
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
NM_006019.4(TCIRG1):c.1083C>G (p.Leu361=) rs532106336
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1511T>A (p.Val504Asp) rs1855591352
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1602G>A (p.Lys534=) rs1855645512
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.1853A>G (p.His618Arg) rs886048599
NM_006019.4(TCIRG1):c.1979G>A (p.Arg660His) rs746874956
NM_006019.4(TCIRG1):c.197C>T (p.Thr66Ile) rs886048593
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=) rs139049989
NM_006019.4(TCIRG1):c.2475C>A (p.Phe825Leu) rs886048602
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=) rs779281265
NM_006019.4(TCIRG1):c.934A>G (p.Ser312Gly) rs1855349604
NM_006019.4(TCIRG1):c.961G>C (p.Glu321Gln) rs372690969
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*2276C>A rs546976371
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2487T>A rs981097901
NM_014028.4(OSTM1):c.*262C>G rs1771931979
NM_014028.4(OSTM1):c.*2707C>T rs1771876396
NM_014028.4(OSTM1):c.*2858A>G rs534652017
NM_014028.4(OSTM1):c.*291A>G rs886060970
NM_014028.4(OSTM1):c.*3280T>C rs1771868120
NM_014028.4(OSTM1):c.*778T>G rs756978751
NM_014028.4(OSTM1):c.*873A>G rs886060969
NM_014028.4(OSTM1):c.-52G>T rs886060974
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) rs369188843
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.950-12T>C rs886060972

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