ClinVar Miner

List of variants reported by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val) rs148243995 0.00140
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser) rs142519614 0.00009
NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met) rs753104655 0.00006
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) rs150138364 0.00006
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_001395413.1(POR):c.1579C>T (p.Pro527Ser) rs375387233 0.00004
NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile) rs761862402 0.00004
NM_033656.4(BRWD1):c.656G>A (p.Arg219His) rs372595428 0.00004
NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr) rs375553171 0.00003
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565 0.00003
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) rs756631085 0.00002
NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) rs146692547 0.00002
NM_001718.6(BMP6):c.409C>A (p.Leu137Met) rs747427445 0.00002
NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) rs368491231 0.00002
NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu) rs750291697 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_016539.4(SIRT6):c.362G>A (p.Arg121His) rs771714154 0.00002
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) rs765854160 0.00001
NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn) rs1006463439 0.00001
NM_002253.4(KDR):c.724C>T (p.Leu242Phe) rs587778428 0.00001
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) rs747855434 0.00001
NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) rs767306816 0.00001
NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg) rs1986874557 0.00001
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) rs1698123763 0.00001
NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) rs1469441260 0.00001
NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser) rs764103256 0.00001
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) rs999822357 0.00001
NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln) rs1272612301 0.00001
NC_000001.10:g.158323371_158352947del29577
NC_000001.10:g.172652343_183538289del10885947
NC_000001.11:g.112796384_112887499dup
NC_000001.11:g.194043799_194353490dup
NC_000001.11:g.202057882_202124606dup
NC_000001.11:g.246005506_246528998dup
NC_000001.11:g.246924924_247245758dup
NC_000001.11:g.25320307_25719620dup
NC_000001.11:g.45650769_45929717dup
NC_000002.11:g.133725047_134126372del401326
NC_000002.11:g.159142708_159250404del107697
NC_000002.11:g.61795359_61831792del36434
NC_000002.12:g.183054447_183247902dup
NC_000002.12:g.35742924_35765778dup
NC_000003.11:g.9387774_9503839del116066
NC_000003.11:g.94689602_94823543del133942
NC_000003.12:g.127814446_127916946dup
NC_000003.12:g.189709350_189867832dup
NC_000003.12:g.189709350_189870688dup
NC_000003.12:g.30872874_31319912dup
NC_000003.12:g.57686154_57804308dup
NC_000004.11:g.31744797_31975862del231066
NC_000004.12:g.90236498_90494805dup
NC_000005.10:g.160592205_161364688dup
NC_000005.10:g.69553767_71361920dup
NC_000005.9:g.112179040_112192379del13340
NC_000005.9:g.152263564_152321761del58198
NC_000005.9:g.68818173_70657747del1839575
NC_000005.9:g.69741318_70422356del681039
NC_000005.9:g.69767948_70345611del577664
NC_000005.9:g.70308101_70657747del349647
NC_000006.11:g.259528_293493del33966
NC_000006.11:g.259881_378956del119076
NC_000006.11:g.259881_389482del129602
NC_000006.11:g.279667_378956del99290
NC_000006.11:g.283968_375949del91982
NC_000006.12:g.170299941_170556913dup
NC_000006.12:g.259881_378956dup
NC_000006.12:g.299363_378956dup
NC_000006.12:g.7075305_7111311dup
NC_000007.13:g.107262480_107286241del23762
NC_000007.13:g.23236782_30690453del7453672
NC_000007.14:g.39960093_40104664dup
NC_000008.10:g.104306192_104334440del28249
NC_000008.10:g.13034651_13120326del85676
NC_000008.10:g.8790358_8891761del101404
NC_000008.11:g.23671119_23712463dup
NC_000008.11:g.90692712_90718088dup
NC_000009.11:g.17295644_17364986del69343
NC_000009.11:g.17298850_17357754del58905
NC_000009.11:g.24242825_24310533del67709
NC_000009.11:g.2654203_2668811del14609
NC_000009.12:g.137604238_138131469dup
NC_000009.12:g.75502958_76045032dup
NC_000010.10:g.135252327_135378761del126435
NC_000010.11:g.133438823_133565257dup
NC_000010.11:g.133468178_133564028dup
NC_000010.11:g.133468178_133565257dup
NC_000010.11:g.133468178_133591019dup
NC_000010.11:g.33846064_33943640dup
NC_000011.10:g.5433500_5475233dup
NC_000011.9:g.105126944_105347752del220809
NC_000012.12:g.42127457_42199952dup
NC_000013.11:g.46968080_87381985del40413906
NC_000014.8:g.54195768_54215968del20201
NC_000015.9:g.34125784_34151995del26212
NC_000015.9:g.83214012_84812693del1598682
NC_000015.9:g.89595324_89652892del57569
NC_000016.10:g.56402918_56428075dup
NC_000016.10:g.89490211_89491991del
NC_000016.9:g.88365786_89584412del1218627
NC_000016.9:g.89220725_89420725dup200001
NC_000016.9:g.89306725_89339913del33189
NC_000017.10:g.57075470_57235248del159779
NC_000017.11:g.1227482_1458196dup
NC_000018.10:g.62431580_62441327del
NC_000019.10:g.17871184_17932288dup
NC_000019.10:g.53536530_53981185dup
NC_000019.9:g.23624728_24054225del429498
NC_000020.10:g.51258881_51372398del113518
NC_000021.8:g.22418118_22450219del32102
NC_000022.10:g.21808950_22963000del1154051
NC_000023.10:g.151638056_151743864del105809
NC_000023.10:g.23209046_23463336del254291
NC_000023.10:g.50653777_50689335del35559
NC_000023.10:g.74772380_74826319del53940
NC_000023.10:g.97984949_98010783del25835
NC_000023.11:g.1435054_1493581dup
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) rs1428700861
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) rs990172603
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) rs752309888
NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys) rs1953872046
NM_000949.7(PRLR):c.851T>G (p.Leu284Trp) rs748942718
NM_001012755.5(SLC25A53):c.-22690_-32+1371dup
NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser) rs1189945732
NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr) rs2066768594
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg) rs138974583
NM_001048205.2(REC8):c.1057A>C (p.Thr353Pro) rs370763234
NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu) rs2050659596
NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs) rs2042109833
NM_001080517.3(SETD5):c.960del (p.Lys320fs) rs2041316219
NM_001184785.2(PARD3):c.3181C>G (p.Gln1061Glu) rs910077515
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) rs774733445
NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile) rs1942174898
NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter) rs996929151
NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys) rs1674524213
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) rs1954829367
NM_001365242.1(CPEB1):c.-98+1610_-98+5362del
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) rs760137127
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) rs188208167
NM_002037.5(FYN):c.206C>G (p.Ser69Cys) rs1800846906
NM_002303.6(LEPR):c.709C>T (p.Pro237Ser) rs1656071790
NM_002467.6(MYC):c.478G>A (p.Val160Ile) rs1813651626
NM_002693.3(POLG):c.1685G>A (p.Arg562Gln) rs781168350
NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys) rs1926453223
NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) rs1660658865
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) rs1299892808
NM_005269.3(GLI1):c.2227T>C (p.Tyr743His) rs1871871826
NM_006251.6(PRKAA1):c.128-8015_128-1544del
NM_006526.2(ZNF217):c.*561_*22199dup
NM_006729.4(DIAPH2):c.3242-79706_3242-26582dup
NM_007371.4(BRD3):c.1149G>A (p.Met383Ile) rs1830145204
NM_013275.6(ANKRD11):c.-145+634_-145+1315del rs2152385271
NM_013275.6(ANKRD11):c.-145+88_-145+103del rs2152388054
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter) rs1414996600
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs) rs1555529726
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter) rs2151764291
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter) rs2151760280
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter) rs2151759503
NM_013275.6(ANKRD11):c.2987G>T (p.Gly996Val) rs1205687342
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs) rs2151755532
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs) rs2034368063
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter) rs148501903
NM_013275.6(ANKRD11):c.4414G>A (p.Glu1472Lys) rs1597451653
NM_013275.6(ANKRD11):c.5401G>A (p.Glu1801Lys) rs938676909
NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter) rs2151735444
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.7031T>C (p.Leu2344Pro) rs2033979033
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met) rs1944696380
NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala) rs1691535270
NM_024426.6(WT1):c.1021A>G (p.Ser341Gly) rs1852103616
NM_030665.4(RAI1):c.-148-13952_-148-10583del
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) rs2143002601
NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser) rs1353278679
NM_152756.5(RICTOR):c.1325A>G (p.His442Arg) rs1329438711
NM_205860.3(NR5A2):c.681T>G (p.His227Gln) rs749896579
NM_207189.4(BRDT):c.1538del (p.Asp513fs) rs1188709614
NR_033829.1(MIR4500HG):n.58_128+41006dup
NR_104475.1(DUSP22):n.-32176_504+10738dup
NR_147836.1(LINC02714):n.599-7397_140620dup
Single allele

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