ClinVar Miner

List of variants reported as likely pathogenic for megaloblastic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_001081.4(CUBN):c.10246_10258del (p.Asp3416fs)
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1252del (p.Cys418fs)
NM_001081.4(CUBN):c.1415_1416delinsGAT (p.Gln472fs)
NM_001081.4(CUBN):c.1421del (p.Cys474fs)
NM_001081.4(CUBN):c.2053dup (p.His685fs)
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
NM_001081.4(CUBN):c.2578del (p.Val860fs)
NM_001081.4(CUBN):c.2792-5_2795del
NM_001081.4(CUBN):c.3672+2T>C
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
NM_001081.4(CUBN):c.4691_4695+3del
NM_001081.4(CUBN):c.4695+1G>T
NM_001081.4(CUBN):c.4855+1G>A
NM_001081.4(CUBN):c.4969+1G>A
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5074del (p.Leu1692fs)
NM_001081.4(CUBN):c.5169dup (p.Ala1724fs)
NM_001081.4(CUBN):c.5209+1G>A
NM_001081.4(CUBN):c.5209+2T>C
NM_001081.4(CUBN):c.5414dup (p.His1806fs)
NM_001081.4(CUBN):c.5549-1G>A
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)
NM_001081.4(CUBN):c.6926_6928delinsAA (p.Gly2309fs)
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)
NM_001081.4(CUBN):c.7001-1del
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)
NM_001081.4(CUBN):c.7143del (p.Phe2382fs)
NM_001081.4(CUBN):c.7145_7174del (p.Phe2382_Lys2392delinsTer)
NM_001081.4(CUBN):c.7401del (p.Tyr2468fs)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.793_794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001081.4(CUBN):c.7997_8003delinsAACCTTTGTTATACCTTTGTCACCAACGAACGTGTCAT (p.Trp2666_His2668delinsTer)
NM_001081.4(CUBN):c.8114_8115delinsTATGACACAAGCC (p.Tyr2705delinsLeuTer)
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)
NM_001081.4(CUBN):c.8598+1G>T
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
NM_001081.4(CUBN):c.8756-2A>G
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)
NM_001081.4(CUBN):c.9454+1G>A
NM_001081.4(CUBN):c.9553del (p.Cys3185fs)
NM_001081.4(CUBN):c.9556_9557del (p.Val3186fs)
NM_001081.4(CUBN):c.9612del (p.Phe3204fs)
NM_001081.4(CUBN):c.9664-2A>C
NM_006996.3(SLC19A2):c.1365+1G>A
NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs)
NM_006996.3(SLC19A2):c.749G>A (p.Trp250Ter)
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_006996.3(SLC19A2):c.910del (p.Leu304fs)
NM_030943.4(AMN):c.1041_1044dup (p.Ser349fs)
NM_030943.4(AMN):c.1093_1100dup (p.Ala368fs)
NM_030943.4(AMN):c.1134_1147del (p.Pro381fs)
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.208-13_211del
NM_030943.4(AMN):c.223_226dup (p.Glu76fs)
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.509del (p.Gly170fs)
NM_030943.4(AMN):c.56_57dup (p.Val20fs)
NM_030943.4(AMN):c.707del (p.Gln236fs)
NM_030943.4(AMN):c.736C>T (p.Gln246Ter)
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_206965.2(FTCD):c.1018del (p.Leu340fs)
NM_206965.2(FTCD):c.1020dup (p.Arg341fs)
NM_206965.2(FTCD):c.1031_1061del (p.Val344fs)
NM_206965.2(FTCD):c.1061_1062dup (p.Gly355fs)
NM_206965.2(FTCD):c.1072_1085del (p.Ser358fs)
NM_206965.2(FTCD):c.1081_1096del (p.Ala361fs)
NM_206965.2(FTCD):c.1085_1087delinsTGGGGTCGCT (p.Ala362fs)
NM_206965.2(FTCD):c.1303dup (p.Arg435fs)
NM_206965.2(FTCD):c.1304+1G>A
NM_206965.2(FTCD):c.1443+1del
NM_206965.2(FTCD):c.1444-1G>A
NM_206965.2(FTCD):c.1444-2A>C
NM_206965.2(FTCD):c.1522G>T (p.Glu508Ter)
NM_206965.2(FTCD):c.1543del (p.His515fs)
NM_206965.2(FTCD):c.184del (p.Ala62fs)
NM_206965.2(FTCD):c.293dup (p.Val99fs) rs1310075515
NM_206965.2(FTCD):c.299dup (p.Ser100fs)
NM_206965.2(FTCD):c.330dup (p.Phe111fs)
NM_206965.2(FTCD):c.333del (p.Phe111fs)
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter)
NM_206965.2(FTCD):c.460C>T (p.Gln154Ter)
NM_206965.2(FTCD):c.54+2T>A
NM_206965.2(FTCD):c.673dup (p.Tyr225fs)
NM_206965.2(FTCD):c.939C>A (p.Cys313Ter)
NM_206965.2(FTCD):c.993del (p.Glu332fs)
NM_206965.2(FTCD):c.998_1002del (p.Arg333fs)

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