ClinVar Miner

List of variants studied for familial hemolytic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
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_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 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.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.2702G>A (p.Arg901Gln) rs189300762 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001386140.1(MTTP):c.1067+1G>C rs752343394 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu) rs776831481 0.00001
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) rs750490778 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.604G>A (p.Glu202Lys) rs879205711 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) rs186462241 0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) rs1725827570 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.863C>A (p.Pro288His) rs1022457887 0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser) rs782790256 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_000037.4(ANK1):c.1273C>T (p.Gln425Ter)
NM_000037.4(ANK1):c.2267A>G (p.Asn756Ser)
NM_000037.4(ANK1):c.2390_2393del
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1191+1del
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.1509_1510del (p.Gly505fs)
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905dup (p.Thr636fs)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.353del (p.Gly118fs)
NM_000289.6(PFKM):c.594-2_594del
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1040A>C (p.Tyr347Ser)
NM_000342.4(SLC4A1):c.1043A>C (p.Gln348Pro)
NM_000342.4(SLC4A1):c.107-14C>A
NM_000342.4(SLC4A1):c.1103C>T (p.Pro368Leu)
NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)
NM_000342.4(SLC4A1):c.112G>A (p.Asp38Asn)
NM_000342.4(SLC4A1):c.1150C>T (p.Arg384Cys)
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1273G>A (p.Gly425Ser)
NM_000342.4(SLC4A1):c.1294C>T (p.Arg432Trp)
NM_000342.4(SLC4A1):c.1318C>G (p.Leu440Val)
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
NM_000342.4(SLC4A1):c.1421C>G (p.Ala474Gly)
NM_000342.4(SLC4A1):c.1430C>T (p.Ser477Leu)
NM_000342.4(SLC4A1):c.143C>T (p.Thr48Ile)
NM_000342.4(SLC4A1):c.1442C>G (p.Thr481Ser)
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
NM_000342.4(SLC4A1):c.1501G>A (p.Val501Met)
NM_000342.4(SLC4A1):c.1507T>G (p.Leu503Val)
NM_000342.4(SLC4A1):c.1513G>A (p.Val505Met)
NM_000342.4(SLC4A1):c.1514T>A (p.Val505Glu)
NM_000342.4(SLC4A1):c.1515G>A (p.Val505=)
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1553G>A (p.Arg518His)
NM_000342.4(SLC4A1):c.161C>T (p.Thr54Ile)
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1737C>A (p.Ala579=)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000342.4(SLC4A1):c.1780A>T (p.Ser594Cys)
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
NM_000342.4(SLC4A1):c.1800+3C>G
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1819G>A (p.Asp607Asn) rs2144606989
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.1890+7C>T
NM_000342.4(SLC4A1):c.1891-10C>T
NM_000342.4(SLC4A1):c.1940G>A (p.Gly647Asp)
NM_000342.4(SLC4A1):c.2020G>A (p.Val674Ile)
NM_000342.4(SLC4A1):c.2032A>C (p.Ile678Leu)
NM_000342.4(SLC4A1):c.2058-16C>A
NM_000342.4(SLC4A1):c.2089G>T (p.Val697Phe)
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
NM_000342.4(SLC4A1):c.2194G>A (p.Val732Ile)
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2252C>T (p.Ala751Val)
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2326A>G (p.Met776Val)
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2345G>A (p.Arg782His)
NM_000342.4(SLC4A1):c.239G>C (p.Arg80Pro)
NM_000342.4(SLC4A1):c.2416T>C (p.Phe806Leu)
NM_000342.4(SLC4A1):c.2444C>T (p.Pro815Leu)
NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)
NM_000342.4(SLC4A1):c.2516T>A (p.Ile839Asn)
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del) rs774121522
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2578C>T (p.Pro860Ser)
NM_000342.4(SLC4A1):c.2609G>A (p.Arg870Gln)
NM_000342.4(SLC4A1):c.2624C>T (p.Pro875Leu)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>A (p.Glu906Lys) rs199694087
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.290C>T (p.Pro97Leu)
NM_000342.4(SLC4A1):c.29A>T (p.Asp10Val)
NM_000342.4(SLC4A1):c.349+1G>C
NM_000342.4(SLC4A1):c.391G>C (p.Val131Leu)
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
NM_000342.4(SLC4A1):c.449G>T (p.Arg150Leu)
NM_000342.4(SLC4A1):c.457C>G (p.Leu153Val)
NM_000342.4(SLC4A1):c.463C>T (p.Arg155Trp)
NM_000342.4(SLC4A1):c.486-14T>G
NM_000342.4(SLC4A1):c.573A>G (p.Gln191=)
NM_000342.4(SLC4A1):c.574C>A (p.His192Asn)
NM_000342.4(SLC4A1):c.619G>A (p.Gly207Ser)
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)
NM_000342.4(SLC4A1):c.703G>A (p.Asp235Asn)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.768G>A (p.Val256=)
NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)
NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)
NM_000342.4(SLC4A1):c.796T>C (p.Phe266Leu)
NM_000342.4(SLC4A1):c.828C>T (p.Ile276=)
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
NM_000342.4(SLC4A1):c.85T>G (p.Ser29Ala)
NM_000342.4(SLC4A1):c.862C>A (p.Leu288Ile)
NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)
NM_000342.4(SLC4A1):c.93G>T (p.Met31Ile)
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000611.6(CD59):c.143_144del (p.Asp47_Phe48insTer)
NM_000611.6(CD59):c.190del (p.Cys64fs)
NM_000611.6(CD59):c.2T>C (p.Met1Thr)
NM_000611.6(CD59):c.301del (p.Glu101fs)
NM_001114134.2(EPB42):c.108dup (p.Gln37fs)
NM_001114134.2(EPB42):c.775C>T (p.Arg259Ter)
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1813A>G (p.Met605Val)
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.3367G>T (p.Glu1123Ter)
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.6834G>T (p.Trp2278Cys)
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001166686.2(PFKM):c.62_65del (p.Val21fs)
NM_001243177.4(ALDOA):c.274+3G>A
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)
NM_001355436.2(SPTB):c.3262del (p.Asp1088fs)
NM_001355436.2(SPTB):c.4589A>G (p.His1530Arg)
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367805.3(KIF23):c.1508A>G (p.Asn503Ser)
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.2036del (p.Pro679fs)
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.502-1G>C rs1449774712
NM_001386140.1(MTTP):c.52del (p.Ser18fs)
NM_001386140.1(MTTP):c.62-2A>G
NM_001386140.1(MTTP):c.672del (p.Asp224fs)
NM_002049.4(GATA1):c.1003A>C (p.Met335Leu)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.499G>C (p.Asp167His)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
NM_002049.4(GATA1):c.748G>A (p.Val250Ile)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.6627G>A (p.Met2209Ile)
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.6968T>A (p.Leu2323Gln)
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005689.4(ABCB6):c.1864-4A>G
NM_005689.4(ABCB6):c.2359A>G (p.Thr787Ala)
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1616_1617del (p.Glu539fs)
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)
NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1407G>T (p.Gln469His)
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_138477.4(CDAN1):c.148_151dup (p.Pro51fs)
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)
NM_138477.4(CDAN1):c.175G>T (p.Glu59Ter)
NM_138477.4(CDAN1):c.2044C>T (p.Arg682Ter) rs375339408
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2632_2633del (p.Val878fs)
NM_138477.4(CDAN1):c.2783_2789delinsTGGGGCGG (p.Gln928fs)
NM_138477.4(CDAN1):c.3204+1G>A
NM_138477.4(CDAN1):c.774-1G>T

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