ClinVar Miner

List of variants reported by Duke University Health System Sequencing Clinic, Duke University Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 188
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00119
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) rs375517057 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) rs1025711998 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539 0.00003
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749 0.00003
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546 0.00003
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter) rs1463651673 0.00001
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter) rs143038880 0.00001
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000264.5(PTCH1):c.254_255del (p.Arg85fs) rs1554708771
NM_000612.6(IGF2):c.243_244del (p.Glu81fs)
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000937.5(POLR2A):c.2543T>C (p.Ile848Thr)
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001039591.3(USP9X):c.4973G>A (p.Arg1658Gln)
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
NM_001044.5(SLC6A3):c.792+4A>T
NM_001083962.2(TCF4):c.784_785insCA (p.Arg262fs)
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) rs61754458
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met) rs796052562
NM_001170535.3(ATAD3A):c.385-2A>C
NM_001190737.2(NFIB):c.686-2A>G
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) rs2144522815
NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)
NM_001303457.2(TTI1):c.2513C>T (p.Ser838Leu)
NM_001303457.2(TTI1):c.2998+2T>C
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.5284A>C (p.Ile1762Leu)
NM_001330288.2(SMARCC2):c.1926+2T>C rs1565903353
NM_001347721.2(DYRK1A):c.1072-1G>A
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001356.5(DDX3X):c.864+2T>G
NM_001365902.3(NFIX):c.236T>C (p.Leu79Pro)
NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312
NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378974.1(FBXW11):c.1393G>A (p.Glu465Lys) rs2113754835
NM_001379451.1(BCORL1):c.4324C>T (p.Gln1442Ter)
NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)
NM_001382.4(DPAGT1):c.742G>A (p.Val248Met)
NM_001394062.1(MACF1):c.21752G>C (p.Arg7251Pro)
NM_001407.3(CELSR3):c.5634+1G>T
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter) rs1018525321
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002578.5(PAK3):c.176-1G>A
NM_002653.5(PITX1):c.292del (p.Ser98fs)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003060.4(SLC22A5):c.1053-11C>G
NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg)
NM_003079.5(SMARCE1):c.237+1G>T rs1426841589
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val) rs1799653139
NM_003400.4(XPO1):c.1952A>T (p.Glu651Val)
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003737.4(DCHS1):c.163C>T (p.Gln55Ter)
NM_003737.4(DCHS1):c.9434G>A (p.Gly3145Asp)
NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)
NM_004082.5(DCTN1):c.279+2T>C
NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) rs886039491
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu) rs1554772913
NM_004438.5(EPHA4):c.209A>T (p.Tyr70Phe)
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004586.3(RPS6KA3):c.2101-2A>G
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005982.4(SIX1):c.329G>A (p.Arg110Gln) rs1064794308
NM_006009.4(TUBA1A):c.657T>G (p.Ile219Met) rs146680997
NM_006047.6(RBM12):c.1046A>T (p.Lys349Met)
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)
NM_006186.4(NR4A2):c.863A>G (p.Lys288Arg)
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)
NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)
NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)
NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe) rs267607087
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006734.4(HIVEP2):c.117del (p.Phe39fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006915.3(RP2):c.883+1del
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_007327.4(GRIN1):c.1687T>G (p.Trp563Gly)
NM_007327.4(GRIN1):c.2451C>A (p.Phe817Leu)
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014727.3(KMT2B):c.2937del (p.Ser980fs)
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser) rs1568413207
NM_015021.3(ZNF292):c.4973_4974del (p.Ile1658fs)
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
NM_015466.4(PTPN23):c.1662_1696del (p.Gln554fs)
NM_015466.4(PTPN23):c.1679T>C (p.Leu560Pro)
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.2224+1G>T
NM_016059.5(PPIL1):c.277A>C (p.Thr93Pro)
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His) rs2038648611
NM_018133.4(MSL2):c.1102del (p.Ala368fs)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2895G>A (p.Trp965Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019606.6(MEPCE):c.1552C>T (p.Arg518Ter)
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) rs387907227
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.124G>C (p.Gly42Arg)
NM_021224.6(ZNF462):c.718C>T (p.Arg240Ter)
NM_021614.4(KCNN2):c.1977dup (p.Val660fs)
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter) rs869025578
NM_030632.3(ASXL3):c.4153_4154del (p.Val1385fs) rs1599572974
NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter) rs776627170
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr) rs371644969
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_078629.4(MSL3):c.1105C>T (p.Gln369Ter)
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly) rs2123205311
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg)
NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)
NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr)
NM_181784.2(SPRED2):c.374delG
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.