ClinVar Miner

List of variants reported as likely pathogenic for megaloblastic anemia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
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.5428C>T (p.Arg1810Ter) rs143944436 0.00019
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.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 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.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787 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.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_001081.4(CUBN):c.10032+2T>G
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.1015+1G>A
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.10528+1G>A
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.1436C>G (p.Ser479Ter) rs386833767
NM_001081.4(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.4(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.4(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.4(CUBN):c.2053dup (p.His685fs)
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.252+1G>A rs386833776
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
NM_001081.4(CUBN):c.2578del (p.Val860fs)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2792-5_2795del
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.4(CUBN):c.3008+2_3008+5del rs2131844654
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.4(CUBN):c.3329+1G>A
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.4(CUBN):c.3672+2T>C
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
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.489G>A (p.Lys163=) rs386833789
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4969+1G>A
NM_001081.4(CUBN):c.4969+2T>G
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.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-1G>A
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.5927-1G>A
NM_001081.4(CUBN):c.6111_6124+76delinsGC
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
NM_001081.4(CUBN):c.6822-1G>A
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.7001-2A>T rs2131458620
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.7534-1G>T rs1588639188
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.8063-1G>A
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.8598+1_8598+5del
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
NM_001081.4(CUBN):c.8755+2T>C
NM_001081.4(CUBN):c.8756-2A>G
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
NM_001081.4(CUBN):c.884-1G>A
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter) rs386833791
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_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_006996.3(SLC19A2):c.1365+1G>A
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
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.1006+16_1006+30del rs386834160
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1006+36_1007-29del rs386834162
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) rs386834163
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.1169+2T>C
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.208-13_211del
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.223_226dup (p.Glu76fs)
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.43+5G>A
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.509del (p.Gly170fs)
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.56_57dup (p.Val20fs)
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.707del (p.Gln236fs)
NM_030943.4(AMN):c.736C>T (p.Gln246Ter)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.4(AMN):c.844-14_845del
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)
NM_080669.6(SLC46A1):c.138T>A (p.Tyr46Ter)
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
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.1068_1098+24del
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.1261-1G>A
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.990dup (p.Pro331fs) rs398124234
NM_206965.2(FTCD):c.993del (p.Glu332fs)
NM_206965.2(FTCD):c.998_1002del (p.Arg333fs)

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