ClinVar Miner

List of variants reported as likely benign for familial hemolytic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_138477.4(CDAN1):c.*463_*465del rs111961345 0.05900
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251 0.00621
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_003126.4(SPTA1):c.*68C>G rs186892978 0.00406
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=) rs147500837 0.00283
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_000342.4(SLC4A1):c.-60G>A rs75489266 0.00245
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000037.4(ANK1):c.*821C>T rs115248068 0.00146
NM_003126.4(SPTA1):c.*387T>C rs549664412 0.00146
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_003126.4(SPTA1):c.3715-11T>C rs147184530 0.00094
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_003126.4(SPTA1):c.3108C>T (p.His1036=) rs34886778 0.00089
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_000037.4(ANK1):c.*992T>C rs559077429 0.00074
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.*1667T>A rs3802314 0.00061
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_000037.4(ANK1):c.*395T>A rs550204540 0.00049
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00048
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) rs146520285 0.00036
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys) rs181448047 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_006563.5(KLF1):c.-43G>A rs372359976 0.00021
NM_000037.4(ANK1):c.528C>T (p.Ala176=) rs544906793 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr) rs146993090 0.00017
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00011
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys) rs185031946 0.00011
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_000037.4(ANK1):c.*857C>A rs138767348 0.00008
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) rs565611676 0.00003
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) rs540304535 0.00001
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00001
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) rs369714529 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_000037.4(ANK1):c.*1892G>A rs116365681
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) rs561401543
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_138477.4(CDAN1):c.773+14G>A rs543228844
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*448dup rs72646533

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