ClinVar Miner

List of variants reported as uncertain significance by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) rs145731510 0.00151
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NC_000020.11:g.759188G>A rs544939272 0.00113
NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly) rs36225458 0.00106
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) rs144506470 0.00047
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511 0.00035
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_024700.4(SNIP1):c.332G>A (p.Arg111His) rs41267307 0.00019
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) rs201866563 0.00014
NM_015103.3(PLXND1):c.889G>A (p.Ala297Thr) rs376671922 0.00013
NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp) rs759267447 0.00013
NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro) rs763910203 0.00011
NM_001366057.1(OTUD4):c.821G>A (p.Arg274His) rs369308038 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_001606.5(ABCA2):c.4281C>A (p.Ser1427Arg) rs762225648 0.00004
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro) rs1381682599 0.00004
NM_033409.4(SLC52A3):c.-52+394T>C rs750886042 0.00004
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_002725.4(PRELP):c.778G>A (p.Gly260Arg) rs137872837 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_144687.4(NLRP12):c.35G>A (p.Arg12His) rs376754003 0.00003
NM_001085411.3(NADK2):c.1A>G (p.Met1Val) rs1277388010 0.00002
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr) rs749068539 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln) rs763471308 0.00002
NM_005198.5(CHKB):c.224+5G>C rs765251030 0.00002
NM_021222.3(PRUNE1):c.933G>A (p.Thr311=) rs747498357 0.00002
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NM_000182.5(HADHA):c.68-414A>G rs1045384430 0.00001
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala) rs1411857412 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn) rs777582527 0.00001
NM_001042750.2(STAG2):c.290C>T (p.Ser97Leu) rs777893472 0.00001
NM_001206999.2(CIT):c.652G>A (p.Val218Met) rs777293258 0.00001
NM_001277115.2(DNAH11):c.3000+3A>G rs781625159 0.00001
NM_001350197.2(EVI5):c.1192C>T (p.Arg398Cys) rs200507358 0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) rs745305935 0.00001
NM_003482.4(KMT2D):c.10868A>G (p.Gln3623Arg) rs1304886930 0.00001
NM_005811.5(GDF11):c.916G>A (p.Glu306Lys) rs1444997099 0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) rs768628283 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val) rs1583476115 0.00001
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln) rs201234922 0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys) rs758978508 0.00001
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) rs775430621 0.00001
NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp) rs774924316 0.00001
NM_032569.4(GLYR1):c.596C>T (p.Ala199Val) rs369808296 0.00001
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) rs570071609 0.00001
NC_000004.12:g.1869269_1873124del
NC_000007.14:g.1687729_1779914del
NC_000019.10:g.13185527_13190803dup
NM_000051.4(ATM):c.8152-260G>A
NM_000088.4(COL1A1):c.104-284C>T rs2144595908
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln) rs1555358380
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000311.5(PRNP):c.180T>C (p.Pro60=) rs1386720703
NM_000311.5(PRNP):c.198G>A (p.Gly66=) rs750069679
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr) rs1580886828
NM_000360.4(TH):c.487+118G>A
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val) rs752125137
NM_000808.4(GABRA3):c.1037A>G (p.Tyr346Cys) rs2124347030
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001032382.2(PQBP1):c.180-306G>A rs2063414930
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter) rs1401529138
NM_001039591.3(USP9X):c.1315-284G>T
NM_001042424.3(NSD2):c.2519G>T (p.Gly840Val) rs1577537810
NM_001080472.4(FITM2):c.146T>A (p.Leu49His) rs2146092876
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_001110556.2(FLNA):c.4727G>A (p.Gly1576Glu) rs2148110332
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001145346.2(RBMXL3):c.2635G>A (p.Asp879Asn)
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro) rs1555167299
NM_001195553.2(DCX):c.946+4588G>T rs2147622525
NM_001195605.2(ZNF865):c.2091C>G (p.Tyr697Ter)
NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly) rs1572706648
NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) rs1644918844
NM_001303457.2(TTI1):c.629dup (p.Leu210fs)
NM_001330288.2(SMARCC2):c.1926+1G>T rs1555221275
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001352754.2(ARMC9):c.-41-2521_177+2986del
NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn) rs147777576
NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)
NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter) rs2077018821
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)
NM_001376.5(DYNC1H1):c.4147T>C (p.Tyr1383His)
NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu) rs147713337
NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg) rs2145624064
NM_001382508.1(DROSHA):c.3656A>G (p.Asp1219Gly) rs1579987863
NM_001383.6(DPH1):c.749+39G>A
NM_001385682.1(MAP4):c.1370A>G (p.Asn457Ser)
NM_001385682.1(MAP4):c.5800_5820del (p.Ser1934_Pro1940del)
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001393769.1(MED12L):c.3664+2T>G
NM_001394372.1(BICRA):c.936del (p.Ala313fs) rs1973010599
NM_001395891.1(CLASP1):c.196-601A>C rs767236617
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys) rs143473036
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly) rs2053293877
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp) rs1420949011
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) rs983143417
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002184.4(IL6ST):c.1552+3A>C rs1580801563
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer) rs1750932254
NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002868.4(RAB5B):c.406G>C (p.Asp136His) rs2136490152
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala) rs2151286956
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser) rs1572690133
NM_003491.4(NAA10):c.139G>A (p.Asp47Asn)
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_003870.4(IQGAP1):c.1367T>C (p.Met456Thr)
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004046.6(ATP5F1A):c.992C>T (p.Pro331Leu) rs2144178681
NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg) rs149108761
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) rs1569418673
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys) rs2124656997
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)
NM_004539.4(NARS1):c.1251+699A>G
NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg) rs2144062523
NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)
NM_004655.4(AXIN2):c.196G>A (p.Glu66Lys) rs2144589822
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs) rs2107801839
NM_004766.3(COPB2):c.1906dup (p.Thr636fs) rs2107797719
NM_004793.4(LONP1):c.1694A>G (p.Tyr565Cys) rs1599450036
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
NM_005443.5(PAPSS1):c.286A>G (p.Asn96Asp)
NM_005443.5(PAPSS1):c.331C>T (p.Arg111Ter)
NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser) rs1254270535
NM_005811.5(GDF11):c.1008C>G (p.Tyr336Ter) rs1449282134
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) rs2131435194
NM_006133.3(DAGLA):c.2456_2457del (p.His819fs)
NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro) rs2144812147
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
NM_006247.4(PPP5C):c.139G>A (p.Ala47Thr)
NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) rs1589316371
NM_007212.4(RNF2):c.209G>A (p.Arg70His) rs1651767648
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)
NM_012398.3(PIP5K1C):c.436G>A (p.Glu146Lys) rs2145483622
NM_013265.4(VPS51):c.1878+42G>A
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_014232.3(VAMP2):c.221C>T (p.Ala74Val) rs1983316869
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile) rs1706440222
NM_015001.3(SPEN):c.3978A>G (p.Ile1326Met)
NM_015057.5(MYCBP2):c.8005C>T (p.Arg2669Ter)
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015100.4(POGZ):c.2546-20T>A rs2102153141
NM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)
NM_015426.5(POC1A):c.79_87del (p.Phe27_Ile29del) rs2107211932
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_016011.4(MECR):c.-39G>C rs749435497
NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)
NM_018082.6(POLR3B):c.2084-3092_2294-553del
NM_018328.4:c.-925+35305_-557+13791del
NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu) rs2036591621
NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro) rs1291676751
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020442.6(VARS2):c.986-14A>G rs1297230026
NM_020546.3(ADCY2):c.1489T>A (p.Tyr497Asn)
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del) rs1304094668
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter) rs1562847240
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)
NM_024580.6(EFL1):c.1971C>G (p.His657Gln) rs779232326
NM_031157.4(HNRNPA1):c.1063+15_*5-68del rs1944223180
NM_032569.4(GLYR1):c.584G>T (p.Gly195Val) rs1555500532
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)
NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu) rs2136943414
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del) rs1403147116
NM_145117.5(NAV2):c.5011_5012del (p.Leu1672fs) rs2153657779
NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer) rs2153703273
NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)
NM_153354.5(TMEM161B):c.800+5G>A
NM_153354.5(TMEM161B):c.980T>C (p.Leu327Ser)
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs) rs1849424627
NR_023317.1(RNU7-1):n.23T>G
NR_029686.1(MIR145):n.18C>A
Single allele

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