ClinVar Miner

List of variants in gene MTTP studied for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) rs10011440 0.00073
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00029
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) rs151204426 0.00026
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) rs374820674 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 0.00005
NM_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) rs759200881 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=) rs751421159 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 0.00003
NM_001386140.1(MTTP):c.*38G>A rs561157874 0.00002
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) rs1725827570 0.00001
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) rs749203075 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) rs781654995 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) rs774949603 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.12:g.(99601399_99613000)del
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter)
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) rs1179169124
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1344+267A>G
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) rs2110230166
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) rs1578257346
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) rs780797954
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) rs1726269709
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) rs867316992
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.61+2T>C
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)

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