ClinVar Miner

List of variants reported as not provided by Institute of Molecular and Cell Biology, University of Tartu

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
CM000663.1:g.12880153_12913896del
CM000663.1:g.3411413_3431235dup
CM000664.1:g.123818296_123878592dup
CM000664.1:g.14355721_14385992dup
CM000664.1:g.154163944_154199490dup
CM000664.1:g.223798501_223823141dup
CM000664.1:g.39518512_39588797dup
CM000665.1:g.100351696_100437892dup
CM000665.1:g.128391789_128412024dup
CM000665.1:g.162132155_162142475dup
CM000665.1:g.163178778_163263886dup
CM000665.1:g.186411076_186494422dup
CM000666.1:g.161590091_161646978dup
CM000666.1:g.161945302_162009525dup
CM000666.1:g.44976703_45002987dup
CM000667.1:g.18819946_18913137dup
CM000667.1:g.68757774_68828296dup
CM000668.1:g.112955668_112968423dup
CM000668.1:g.147685480_147723577dup
CM000668.1:g.66593133_66622346dup
CM000669.1:g.76134203_76144560dup
CM000670.1:g.84876695_84890104dup
CM000671.1:g.30181745_30222006dup
CM000673.1:g.107653081_107683596dup
CM000673.1:g.42151229_42185849dup
CM000673.1:g.82858667_82876270dup
CM000674.1:g.129226773_129266496dup
CM000675.1:g.20470071_20509959dup
CM000675.1:g.81919202_81952150dup
CM000675.1:g.95999739_96035883dup
CM000676.1:g.90758891_90802050dup
CM000677.1:g.24594816_24668007dup
CM000681.1:g.41350895_41379148dup
GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3
GRCh37/hg19 3q25.1(chr3:151514590-151574286)x1
GRCh38/hg38 10q21.3(chr10:66318723-66354723)x1
GRCh38/hg38 12p13.31(chr12:7851162-7970710)x1
GRCh38/hg38 5p13.3(chr5:32107275-32159411)x3
GRCh38/hg38 5q15(chr5:97712762-97763616)x1
GRCh38/hg38 8q24.23(chr8:136675987-136845084)x1
NC_000001.10:g.50863202_50874830del
NC_000001.11:g.103611243_103613322del
NC_000001.11:g.111383531_111391682del
NC_000001.11:g.231573658_231727458dup
NC_000001.11:g.2420707_2434877dup
NC_000001.11:g.2427505_2438059dup
NC_000001.11:g.40877936_40912404dup
NC_000001.11:g.73494196_73528121dup
NC_000001.11:g.94401500_94669347dup
NC_000002.11:g.242812080_243048760del
NC_000002.11:g.89427986_90240473dup
NC_000002.11:g.89427986_91820358dup
NC_000002.12:g.13346653_13396647dup
NC_000002.12:g.135214523_135473889dup
NC_000002.12:g.153845295_154275106dup
NC_000002.12:g.183933099_183937882del
NC_000002.12:g.200978777_201106301dup
NC_000002.12:g.240619519_240637209dup
NC_000002.12:g.2860438_2913183dup
NC_000002.12:g.49630800_49638002del
NC_000002.12:g.64468759_64476152del
NC_000002.12:g.76713923_76721975del
NC_000003.11:g.75428675_75469493del
NC_000003.12:g.136430297_136541880dup
NC_000003.12:g.149246905_149249548del
NC_000003.12:g.151958534_151963230del
NC_000003.12:g.162413621_162421039del
NC_000003.12:g.163943745_163946498del
NC_000003.12:g.1740840_1742201del
NC_000003.12:g.22241802_22244073del
NC_000003.12:g.28769097_28774591del
NC_000003.12:g.35785215_35861393dup
NC_000003.12:g.5349869_5396688del
NC_000003.12:g.62972896_63007409del
NC_000003.12:g.65132272_65133087del rs1553673680
NC_000003.12:g.66534498_66579341dup
NC_000003.12:g.815642_1022142del
NC_000003.12:g.8788186_8816277dup
NC_000004.12:g.10396803_10398532del
NC_000004.12:g.121402957_121412610del
NC_000004.12:g.128853220_129006649dup
NC_000004.12:g.153660056_153664770del
NC_000004.12:g.160140992_160149907del
NC_000004.12:g.161031076_161082472dup
NC_000004.12:g.161031076_161088373dup
NC_000004.12:g.22933066_23561480dup
NC_000004.12:g.2762363_2769047del
NC_000004.12:g.35148038_35149615del
NC_000004.12:g.45815310_45861251dup
NC_000004.12:g.65719204_65764047dup
NC_000005.10:g.156050857_156057228del
NC_000005.10:g.177964050_177973551del
NC_000005.10:g.32101294_32159411dup
NC_000005.10:g.98598184_98603912del
NC_000006.12:g.128772127_128804039dup
NC_000006.12:g.147348950_147402441dup
NC_000006.12:g.14839547_14845568del
NC_000006.12:g.160931666_161145877dup
NC_000006.12:g.19045329_19048542del
NC_000006.12:g.31253262_31261195del
NC_000006.12:g.31370751_31373580del
NC_000006.12:g.65844189_65912453dup
NC_000006.12:g.83843759_83988634dup
NC_000007.13:g.111433419_111630024del
NC_000007.13:g.9636392_9847642del
NC_000007.14:g.109815648_109837120dup
NC_000007.14:g.111429890_111526109dup
NC_000007.14:g.146096986_146099665del
NC_000007.14:g.147420362_147448484dup
NC_000007.14:g.150856388_150863235del
NC_000007.14:g.151893201_151902419del
NC_000007.14:g.19166813_19172086del
NC_000007.14:g.33126458_33146286dup
NC_000007.14:g.44935_63494dup
NC_000007.14:g.53130576_53138532del
NC_000007.14:g.62533792_63268846dup
NC_000007.14:g.76514388_77008124dup
NC_000007.14:g.76845597_77008124dup
NC_000007.14:g.98304289_98528307dup
NC_000008.11:g.16042179_16081673dup
NC_000008.11:g.16405000_16410993del
NC_000008.11:g.40327353_40332030del
NC_000008.11:g.5741877_5750141del
NC_000008.11:g.5741877_5750275del
NC_000008.11:g.5741877_5750560del
NC_000008.11:g.5741878_5747566del
NC_000008.11:g.5743669_5747565del
NC_000008.11:g.8725600_8730080del
NC_000008.11:g.95947591_95957128del
NC_000009.12:g.1447011_1450428del
NC_000009.12:g.83588331_83591428del
NC_000010.11:g.132776127_132855959dup
NC_000010.11:g.133403671_133556028dup
NC_000010.11:g.133438843_133565298dup
NC_000010.11:g.36620136_36660204dup
NC_000010.11:g.44713993_44864035dup
NC_000010.11:g.76697830_76699453del
NC_000011.10:g.104495361_104501590del
NC_000011.10:g.104883774_104890545del
NC_000011.10:g.107788298_107799502dup
NC_000011.10:g.134478080_134850279dup
NC_000011.10:g.18114096_18116607del
NC_000011.10:g.25690753_25699159del
NC_000011.10:g.264391_396308dup
NC_000011.10:g.37746927_37870122dup
NC_000011.10:g.394005_419906dup
NC_000011.10:g.67606198_67820541dup
NC_000011.10:g.83154476_83165228dup
NC_000011.10:g.8937474_8943392del
NC_000011.10:g.96458840_96510730dup
NC_000011.10:g.97981770_98652344del
NC_000011.10:g.99506676_99703958dup
NC_000012.12:g.109115044_109274670dup
NC_000012.12:g.128744329_128749559del
NC_000012.12:g.31106438_31253973dup
NC_000012.12:g.31106438_31256645dup
NC_000012.12:g.31106438_31256844dup
NC_000012.12:g.31106438_31262270dup
NC_000012.12:g.31113353_31253973dup
NC_000012.12:g.31113353_31255762dup
NC_000012.12:g.52452168_52466201del
NC_000012.12:g.63548869_63724778dup
NC_000012.12:g.7777575_7949790dup
NC_000012.12:g.7777575_7993566dup
NC_000012.12:g.7840720_7973149dup
NC_000012.12:g.7848316_7961833dup
NC_000013.10:g.90387429_90490883dup
NC_000013.11:g.105674274_106213814dup
NC_000013.11:g.22782997_22941414dup
NC_000013.11:g.22972099_22979379del
NC_000013.11:g.26440969_26443305del
NC_000013.11:g.58019523_58024897del
NC_000013.11:g.83214607_83217480del
NC_000013.11:g.83214607_83219840del
NC_000013.11:g.85294188_85330291dup
NC_000014.9:g.40385828_40389224del
NC_000014.9:g.58304914_58332643dup
NC_000014.9:g.90322590_90335706dup
NC_000015.10:g.23810341_23816350del
NC_000015.10:g.24349669_24497505dup
NC_000015.10:g.24361585_24422860dup
NC_000015.10:g.32217692_32222141dup
NC_000015.10:g.61395441_61400319del
NC_000015.10:g.81685124_81795773dup
NC_000015.10:g.85968459_85978252del
NC_000015.9:g.23077857_23114374del
NC_000015.9:g.23084443_23114374del
NC_000015.9:g.34760648_34800595del
NC_000016.10:g.28592568_28609431dup
NC_000016.10:g.31209548_31215370del
NC_000016.10:g.35069552_35582805dup
NC_000016.9:g.32608438_33557021del
NC_000017.11:g.19606768_19616131del
NC_000017.11:g.46084075_46290846dup
NC_000017.11:g.46084075_46502770dup
NC_000017.11:g.46092442_46290846dup
NC_000017.11:g.46092442_46502770dup
NC_000017.11:g.52872255_53236993del
NC_000017.11:g.79369452_79395919dup
NC_000017.11:g.79371616_79397955dup
NC_000017.11:g.79371616_79400400dup
NC_000018.10:g.30235355_30236003del rs1555628672
NC_000018.10:g.33322025_33429787dup
NC_000018.10:g.65529212_65551550dup
NC_000018.10:g.66182443_66199550dup
NC_000018.10:g.66241835_66245461del
NC_000018.10:g.67581284_68022952dup
NC_000018.10:g.69080332_69088272del
NC_000021.8:g.35027142_35056247del
NC_000021.9:g.20543803_20546102del
NC_000021.9:g.22647904_22670749del
NC_000021.9:g.43401987_43433979dup
NG_032046.2:g.169545_239936dup
NM_000452.2(SLC10A2):c.920-603_*9014dup
NM_000719.7(CACNA1C):c.477+16040_477+23328del
NM_000762.5(CYP2A6):c.-22817_-420del
NM_001001674.1(OR4F15):c.-19963_8460dup
NM_001004708.1(OR4D6):c.-19514_20175del
NM_001005738.1(FPR2):c.*290_*344331dup
NM_001007090.2(C8orf48):c.-43622_*110542dup
NM_001008392.2(CTDSPL):c.80-8666_80-2299del
NM_001010848.3(NRG3):c.824-173790_824-159316del
NM_001025616.2(ARHGAP24):c.-186452_-21+35669dup
NM_001025778.1(VRK3):c.-376583_-65+1628dup
NM_001037132.4(NRCAM):c.-331-26289_-331-18537del
NM_001040214.2(NKAIN2):c.55-187304_55-129556dup
NM_001040214.2(NKAIN2):c.55-199612_55-129556dup
NM_001077418.3(TMEM231):c.310-1133_*2643dup
NM_001077663.3(URGCP):c.15-7886_15-3360del
NM_001104554.1(PAQR5):c.*88_*39158dup
NM_001110781.2(SLC35E2B):c.-40384_-148+4347del
NM_001135924.3(VWDE):c.541+441_879+501del
NM_001143831.3(GRM5):c.1147+5785_1147+13628del
NM_001144967.3(NEDD4L):c.297+16701_297+17823del
NM_001145279.3(OPRM1):c.-8245_-1+9405del
NM_001145728.2(LMNTD1):c.*22+2227_*22+7996del
NM_001164405.1(BHLHA9):c.-56867_66089del
NM_001164556.1(DISC1):c.-51125_67+50454dup
NM_001164556.1(DISC1):c.-53210_67+50454dup
NM_001201551.1(CFHR4):c.-33981_58+5231del
NM_001244606.1(IMMP2L):c.239+53584_239+101346del
NM_001267803.1(PAAF1):c.*451_*70114dup
NM_001277115.1(DNAH11):c.*88_*70420dup
NM_001277864.1(DHRS4L1):c.-23423_-119+7390del
NM_001282658.2(CCDC3):c.-1-17946_-1-16075del
NM_001282658.2(CCDC3):c.-1-19898_-1-16075del
NM_001282805.1(MARCH7):c.-247472_-1723dup
NM_001286272.1(TPT1):c.*1472_*277473dup
NM_001286725.1(KLHL1):c.498-42937_498-30292del
NM_001310136.1(NPIPB8):c.121-142529_121-137020dup
NM_001320322.1(TMTC2):c.84-78853_84-44447del
NM_001330078.2(NRXN1):c.4128+4348_4128+12181del
NM_001352186.2(ANKS1B):c.1272+40072_1272+46159del
NM_001363059.2(MTUS1):c.2288-111_2449+391del rs1554507014
NM_001363059.2(MTUS1):c.2288-358_2449+390del rs1554507029
NM_001363059.2(MTUS1):c.2288-795_2449+390del
NM_001365693.1(MGAM):c.5275+317_6268+360del
NM_001366141.2(TRPM3):c.183+151699_183+153945dup
NM_001367943.1(TCF7L2):c.552+46764_552+47838del
NM_001378183.1(PIEZO2):c.287-12958_287-4344del
NM_001378183.1(PIEZO2):c.287-8763_287-2437del
NM_001510.3(GRID2):c.245-219371_245-58043del
NM_001752.3(CAT):c.-2331_66+78dup
NM_001752.3(CAT):c.-2331_66+85dup
NM_002125.3(HLA-DRB5):c.-21004_-833del
NM_002155.4(HSPA6):c.-1862_*5145del
NM_002353.2(TACSTD2):c.-43393_*17422del
NM_002531.2(NTSR1):c.*2254_*20847del
NM_002737.2(PRKCA):c.206-81404_206-10168del
NM_002839.3(PTPRD):c.352+22804_352+51088dup
NM_004113.6(FGF12):c.13+132700_13+139762del
NM_004536.3(NAIP):c.569-263_668+1406del
NM_005100.4(AKAP12):c.163-8647_163-5271del
NM_005235.2(ERBB4):c.83-200864_83-199104del
NM_005235.2(ERBB4):c.83-200865_83-194068del
NM_005235.2(ERBB4):c.83-201761_83-197406del
NM_005235.2(ERBB4):c.83-202639_83-194067del
NM_005555.3(KRT6B):c.-16752_-90del
NM_005845.4(ABCC4):c.-29819_74+19835dup
NM_005845.4(ABCC4):c.-82315_74+19835dup
NM_006258.4(PRKG1):c.479-19849_479-16034del
NM_006446.5(SLCO1B1):c.-61-1113_84+4111dup
NM_006765.3(TUSC3):c.-2796_138+12173del
NM_006911.3(RLN1):c.339_*28427del
NM_014515.7(CNOT2):c.48+7810_48+9760del
NM_014515.7(CNOT2):c.48+8340_48+9761del
NM_014932.4(NLGN1):c.-320-82616_-320-12230dup
NM_014932.4(NLGN1):c.-320-82616_-320-21032dup
NM_015194.3(MYO1D):c.2865-44956_2865-37036del
NM_016316.4(REV1):c.351-3232_513dup
NM_016316.4(REV1):c.351-3232_770dup
NM_016329.4(SFMBT1):c.-130-31769_-130-30020del
NM_017551.3(GRID1):c.520+7072_520+11519del
NM_018012.4(KIF26B):c.1166+53868_1166+59172del
NM_018176.3(LGI2):c.-473617_-693dup
NM_018557.3(LRP1B):c.344-65793_344-61550del
NM_018967.5(SNTG1):c.-27-79544_-27-75960del
NM_020883.2(ZSWIM5):c.595+26359_595+34536del
NM_021156.3(TMX4):c.*826_*5132dup
NM_024090.2(ELOVL6):c.-68192_89+40066dup
NM_024795.3(TM4SF20):c.-14304_183+492dup
NM_030905.2(OR2J2):c.-46717_20023del
NM_033214.2(GK2):c.-269359_*167228dup
NM_033225.6(CSMD1):c.818+66153_818+68882del
NM_080676.5(MACROD2):c.418+128756_418+265581del
NM_139265.3(EHD4):c.*803_*33733dup
NM_139286.3(CDC26):c.*369_*91225dup
NM_144682.5(SLFN13):c.2109_*83579del
NM_147199.3(MRGPRX1):c.-359_*6143del
NM_152426.3(APOBEC3D):c.*598_*17235del
NM_152721.6(DOK6):c.67-22582_67-14452del
NM_152744.3(SDK1):c.299-49000_299-30913del
NM_153186.4(KANK1):c.-312435_-438+216dup
NM_175566.2(CNTN5):c.55+98126_55+139782del
NM_178466.5(BPIFA3):c.127+1119_621+52del
NM_178539.5(TAFA2):c.-1-11362_-1-8510del
NM_181646.5(ZNF804B):c.108+198640_108+206657del
NM_182838.2(SLC35E2):c.733-162_*35907del
NM_198179.3(QRFPR):c.340+11600_340+16200del
NM_203447.4(DOCK8):c.1680-13684_1680-12225del
NM_207305.4(FOXD4):c.-155989_*70213dup
NR_001317.3(HCG4B):n.-1429_25883del
NR_002812.3(HCG26):n.-83887_14635dup
NR_003296.1(SNORD115-4):n.-1001_8265del
NR_024159.1(DGCR9):n.-160715_2762del
NR_024561.1(HPN-AS1):n.-3335_43+9498del
NR_024561.1(HPN-AS1):n.-40_43+9498del
NR_026647.1(PWRN2):n.-56949_57842del
NR_027387.1(LINC01003):n.-287356_116323dup
NR_031714.1(MIR1324):n.-251239_47012del
NR_037466.1(MIR3180-4):n.-250198_93962del
NR_037472.1(MIR3910-1):n.-2474_315del
NR_038251.1(DPH6-DT):n.462+30243_462+32397del
NR_038292.1(LINC01012):n.-29277_-1350dup
NR_046946.1(RNU6-81P):n.-14115_29574dup
NR_102701.1(LINC00871):n.232+68453_232+78561del
NR_104610.1(LINC02208):n.2658-20171_2658-14266del
NR_110202.1(AADACL2-AS1):n.320-53588_320-22137del
NR_110592.1(LINC01238):n.972-495_131503del
NR_110592.1(LOC102723927):n.2507_131503del
NR_125764.1(LINC01322):n.201-50931_201-19041del
NR_135237.1(LOC730100):n.754-62628_754-62323del rs1553354646
NT_187614.1:g.363601_383924dup
Single allele

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