ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.1414-23T>C rs10222446 0.48329
NM_001018115.3(FANCD2):c.491+224A>G rs6442147 0.24446
NM_001018115.3(FANCD2):c.2606-135T>C rs9824585 0.24238
NM_001018115.3(FANCD2):c.491+266G>C rs6442148 0.23378
NM_001018115.3(FANCD2):c.1545+210C>G rs17032306 0.23359
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_001018115.3(FANCD2):c.784-308G>A rs9875081 0.23348
NM_001018115.3(FANCD2):c.2859+184G>T rs6782602 0.23336
NM_001018115.3(FANCD2):c.65-263T>A rs10212541 0.23213
NM_001018115.3(FANCD2):c.2386-148G>C rs3895942 0.23183
NM_001018115.3(FANCD2):c.1827+139C>T rs6804967 0.23177
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_001018115.3(FANCD2):c.1135-248T>C rs35208474 0.20824
NM_001018115.3(FANCD2):c.492-241T>C rs7637888 0.20272
NM_001018115.3(FANCD2):c.438+106T>C rs17032277 0.20243
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.696-138C>T rs35220123 0.20233
NM_001018115.3(FANCD2):c.438+58A>C rs17032276 0.20228
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.1657-326C>T rs112847840 0.20113
NM_001018115.3(FANCD2):c.1766+290T>A rs722509 0.20064
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_001018115.3(FANCD2):c.1828-326G>A rs7652190 0.19811
NM_001018115.3(FANCD2):c.2169-154G>A rs34080274 0.19800
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_001018115.3(FANCD2):c.1279-131T>A rs7649243 0.19159
NM_001018115.3(FANCD2):c.206-162A>G rs111392584 0.18793
NM_001018115.3(FANCD2):c.1134+76G>T rs35870071 0.17741
NM_001018115.3(FANCD2):c.1656+237T>C rs34550475 0.15634
NM_001018115.3(FANCD2):c.439-180A>G rs35017428 0.13921
NM_001018115.3(FANCD2):c.2021+31C>T rs3864015 0.12478
NM_001018115.3(FANCD2):c.2494+100A>G rs35888164 0.05863
NM_001018115.3(FANCD2):c.1948-193A>G rs2347585 0.04878
NM_001018115.3(FANCD2):c.1767-260G>A rs35513300 0.03583
NM_001018115.3(FANCD2):c.1134+268G>T rs2287439 0.03502
NM_001018115.3(FANCD2):c.1098+75C>T rs34684855 0.03376
NM_001018115.3(FANCD2):c.2269+37A>G rs34323624 0.03335
NM_001018115.3(FANCD2):c.1135-253A>G rs1983416 0.03327
NM_001018115.3(FANCD2):c.1828-77C>T rs34157687 0.03326
NM_001018115.3(FANCD2):c.1767-137A>G rs6780327 0.03292
NM_001018115.3(FANCD2):c.2385+108C>T rs6769888 0.03280
NM_001018115.3(FANCD2):c.2386-175A>G rs9838049 0.03279
NM_001018115.3(FANCD2):c.2716-68G>A rs7625685 0.03274
NM_001018115.3(FANCD2):c.1546-247G>A rs28654079 0.03266
NM_001018115.3(FANCD2):c.377+164G>A rs7613823 0.03211
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001018115.3(FANCD2):c.1135-64T>G rs35744325 0.03144
NM_001018115.3(FANCD2):c.696-342G>A rs9869743 0.03121
NM_001018115.3(FANCD2):c.571-31G>A rs35749514 0.03113
NM_001018115.3(FANCD2):c.1414-200A>G rs11921952 0.03112
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_001018115.3(FANCD2):c.205+257C>T rs9855143 0.02928
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001018115.3(FANCD2):c.695+102A>G rs35775868 0.02899
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_001018115.3(FANCD2):c.2715+113C>G rs35403996 0.02149
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_001018115.3(FANCD2):c.2976+47A>G rs34810856 0.01704
NM_001018115.3(FANCD2):c.1134+39T>G rs774013442 0.01557
NM_001018115.3(FANCD2):c.2860-150G>A rs71314388 0.01532
NM_001018115.3(FANCD2):c.2168+247C>G rs34915180 0.01212
NM_001018115.3(FANCD2):c.439-294A>G rs34388064 0.00996
NM_001018115.3(FANCD2):c.888+49A>G rs55921165 0.00902
NM_001018115.3(FANCD2):c.1657-219G>A rs140487797 0.00899
NM_001018115.3(FANCD2):c.989+73A>G rs56156755 0.00892
NM_001018115.3(FANCD2):c.2168+229C>T rs56169295 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001018115.3(FANCD2):c.2495-201C>T rs62245518 0.00719
NM_001018115.3(FANCD2):c.2606-40A>T rs36075953 0.00642
NM_001018115.3(FANCD2):c.1827+301G>T rs141497282 0.00629
NM_001018115.3(FANCD2):c.2385+203C>T rs35523931 0.00541
NM_001018115.3(FANCD2):c.1546-81T>C rs36042034 0.00485
NM_001018115.3(FANCD2):c.1546-266T>G rs34840725 0.00424
NM_001018115.3(FANCD2):c.2860-335G>A rs11710252 0.00353
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_001018115.3(FANCD2):c.1546-58A>T rs140083233 0.00299
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.1135-305G>C rs1983415
NM_001018115.3(FANCD2):c.1278+36C>A rs145517746
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1656+1G>T rs748688174
NM_001018115.3(FANCD2):c.1656+38dup rs544799101
NM_001018115.3(FANCD2):c.1657-112dup rs111589951
NM_001018115.3(FANCD2):c.1657-113_1657-112dup rs111589951
NM_001018115.3(FANCD2):c.1767-15del rs34177396
NM_001018115.3(FANCD2):c.1827+291A>T rs35149829
NM_001018115.3(FANCD2):c.1828-293C>T rs145458726
NM_001018115.3(FANCD2):c.1936C>G (p.Pro646Ala)
NM_001018115.3(FANCD2):c.206-124del rs879221957
NM_001018115.3(FANCD2):c.206-126_206-124dup rs879221957
NM_001018115.3(FANCD2):c.206-127_206-124dup rs879221957
NM_001018115.3(FANCD2):c.206-170T>C rs113771705
NM_001018115.3(FANCD2):c.206-246del rs113663828
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2549T>C (p.Ile850Thr)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2623G>T (p.Asp875Tyr) rs2125048443
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.274-12A>G
NM_001018115.3(FANCD2):c.2859+244TAC[4] rs113253588
NM_001018115.3(FANCD2):c.2859+244TAC[7] rs113253588
NM_001018115.3(FANCD2):c.2860-162C>A rs6792951
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.413T>C (p.Leu138Pro) rs1174325302
NM_001018115.3(FANCD2):c.65-174TTTG[3] rs34774358
NM_001018115.3(FANCD2):c.695+205_695+207del rs570512566
NM_001018115.3(FANCD2):c.695+206_695+207del rs570512566
NM_001018115.3(FANCD2):c.696-405A>C rs115447266
NM_001018115.3(FANCD2):c.783+133_783+134insC
NM_001018115.3(FANCD2):c.783+146_783+147del rs201603399
NM_001018115.3(FANCD2):c.783+147dup rs201603399
NM_001018115.3(FANCD2):c.783+151_783+152insG rs111431131
NM_001018115.3(FANCD2):c.783+206del rs372639953
NM_001018115.3(FANCD2):c.783+206dup rs372639953
NM_001018115.3(FANCD2):c.783+223_783+224del rs370636147
NM_001018115.3(FANCD2):c.784-319A>G rs74584011
NM_001018115.3(FANCD2):c.990-133G>T rs803335

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