ClinVar Miner

List of variants in gene GFI1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_005263.5(GFI1):c.648A>G (p.Ala216=) rs114464352 0.02301
NM_005263.5(GFI1):c.1047C>T (p.Phe349=) rs80337126 0.01333
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln) rs6666973 0.00603
NM_005263.5(GFI1):c.168C>T (p.Ser56=) rs143913803 0.00346
NM_005263.5(GFI1):c.483T>C (p.Pro161=) rs374062963 0.00289
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala) rs149914857 0.00269
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_005263.5(GFI1):c.63A>G (p.Pro21=) rs142779589 0.00068
NM_005263.5(GFI1):c.1032C>T (p.Tyr344=) rs139144506 0.00056
NM_005263.5(GFI1):c.786+11C>A rs370294881 0.00030
NM_005263.5(GFI1):c.572C>T (p.Ala191Val) rs758542203 0.00028
NM_005263.5(GFI1):c.1245G>C (p.Arg415=) rs376151566 0.00026
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys) rs200577201 0.00023
NM_005263.5(GFI1):c.588C>T (p.Gly196=) rs370716261 0.00019
NM_005263.5(GFI1):c.83G>A (p.Arg28His) rs372866021 0.00017
NM_005263.5(GFI1):c.1242C>T (p.His414=) rs142561847 0.00016
NM_005263.5(GFI1):c.759C>T (p.Gly253=) rs369149637 0.00014
NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) rs376042061 0.00012
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) rs533176227 0.00009
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_005263.5(GFI1):c.532G>A (p.Gly178Arg) rs768183366 0.00008
NM_005263.5(GFI1):c.49C>G (p.Gln17Glu) rs750251158 0.00007
NM_005263.5(GFI1):c.314T>A (p.Met105Lys) rs201301010 0.00006
NM_005263.5(GFI1):c.736A>G (p.Thr246Ala) rs764922701 0.00005
NM_005263.5(GFI1):c.924+17C>G rs781185536 0.00005
NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) rs1234266152 0.00004
NM_005263.5(GFI1):c.252G>C (p.Ser84=) rs140302204 0.00004
NM_005263.5(GFI1):c.391G>A (p.Asp131Asn) rs750742235 0.00004
NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) rs528437159 0.00004
NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) rs1426616222 0.00004
NM_005263.5(GFI1):c.662T>A (p.Leu221Gln) rs370626442 0.00004
NM_005263.5(GFI1):c.673C>T (p.Arg225Cys) rs758843797 0.00004
NM_005263.5(GFI1):c.713A>G (p.Lys238Arg) rs757156744 0.00004
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg) rs775151292 0.00004
NM_005263.5(GFI1):c.924+13C>T rs745901225 0.00004
NM_005263.5(GFI1):c.187G>A (p.Glu63Lys) rs527842565 0.00003
NM_005263.5(GFI1):c.617C>T (p.Ala206Val) rs368471074 0.00003
NM_005263.5(GFI1):c.804C>T (p.His268=) rs376949976 0.00003
NM_005263.5(GFI1):c.1239G>A (p.Arg413=) rs769776057 0.00002
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr) rs770306507 0.00002
NM_005263.5(GFI1):c.484G>A (p.Gly162Ser) rs1302643142 0.00002
NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) rs773178468 0.00002
NM_005263.5(GFI1):c.498G>A (p.Ala166=) rs772031788 0.00002
NM_005263.5(GFI1):c.506G>T (p.Gly169Val) rs1463895728 0.00002
NM_005263.5(GFI1):c.69A>G (p.Pro23=) rs369812626 0.00002
NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) rs375422035 0.00002
NM_005263.5(GFI1):c.772A>G (p.Ile258Val) rs755193129 0.00002
NM_005263.5(GFI1):c.1251G>A (p.Thr417=) rs757855720 0.00001
NM_005263.5(GFI1):c.181C>G (p.Leu61Val) rs779976283 0.00001
NM_005263.5(GFI1):c.303G>A (p.Ser101=) rs766935424 0.00001
NM_005263.5(GFI1):c.313A>G (p.Met105Val) rs1290770390 0.00001
NM_005263.5(GFI1):c.336C>A (p.Ala112=) rs1255866723 0.00001
NM_005263.5(GFI1):c.383C>A (p.Ala128Glu) rs371451553 0.00001
NM_005263.5(GFI1):c.390T>C (p.Ser130=) rs982399913 0.00001
NM_005263.5(GFI1):c.39C>T (p.His13=) rs371677124 0.00001
NM_005263.5(GFI1):c.401A>C (p.His134Pro) rs1475018499 0.00001
NM_005263.5(GFI1):c.419G>A (p.Arg140Gln) rs551351361 0.00001
NM_005263.5(GFI1):c.46C>T (p.His16Tyr) rs772644896 0.00001
NM_005263.5(GFI1):c.516G>T (p.Arg172=) rs1391305912 0.00001
NM_005263.5(GFI1):c.528C>T (p.Gly176=) rs1184904073 0.00001
NM_005263.5(GFI1):c.541G>A (p.Ala181Thr) rs1345753394 0.00001
NM_005263.5(GFI1):c.576C>G (p.Thr192=) rs181638652 0.00001
NM_005263.5(GFI1):c.594G>A (p.Gly198=) rs1470754174 0.00001
NM_005263.5(GFI1):c.603C>T (p.Gly201=) rs1230474672 0.00001
NM_005263.5(GFI1):c.656G>A (p.Gly219Asp) rs769364541 0.00001
NM_005263.5(GFI1):c.666C>T (p.Tyr222=) rs771550817 0.00001
NM_005263.5(GFI1):c.714G>T (p.Lys238Asn) rs1337988180 0.00001
NM_005263.5(GFI1):c.757G>A (p.Gly253Ser) rs772484731 0.00001
NM_005263.5(GFI1):c.82C>T (p.Arg28Cys) rs1658376108 0.00001
NM_005263.5(GFI1):c.868G>C (p.Gly290Arg) rs1391091980 0.00001
NM_005263.5(GFI1):c.924+11G>A rs1471107230 0.00001
NM_005263.5(GFI1):c.924+14G>A rs1007325566 0.00001
NM_005263.5(GFI1):c.948C>A (p.Ile316=) rs372553729 0.00001
NC_000001.10:g.(?_92941566)_(92949064_?)del
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_005263.5(GFI1):c.100G>A (p.Ala34Thr)
NM_005263.5(GFI1):c.1012C>T (p.Arg338Trp)
NM_005263.5(GFI1):c.1015C>T (p.Pro339Ser)
NM_005263.5(GFI1):c.1065G>A (p.Met355Ile)
NM_005263.5(GFI1):c.1071A>G (p.Lys357=)
NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr) rs2101563362
NM_005263.5(GFI1):c.108C>T (p.Ser36=)
NM_005263.5(GFI1):c.109C>G (p.Arg37Gly) rs2101582188
NM_005263.5(GFI1):c.113C>G (p.Ala38Gly)
NM_005263.5(GFI1):c.115+10_115+29del rs150506480
NM_005263.5(GFI1):c.115+16G>C
NM_005263.5(GFI1):c.115+17G>A
NM_005263.5(GFI1):c.115+4C>G
NM_005263.5(GFI1):c.115+8G>A rs774875013
NM_005263.5(GFI1):c.116-14C>T
NM_005263.5(GFI1):c.116-15G>C
NM_005263.5(GFI1):c.123T>G (p.Thr41=)
NM_005263.5(GFI1):c.1244G>A (p.Arg415Gln)
NM_005263.5(GFI1):c.1245G>T (p.Arg415=) rs376151566
NM_005263.5(GFI1):c.1257T>C (p.His419=)
NM_005263.5(GFI1):c.128A>T (p.Asn43Ile)
NM_005263.5(GFI1):c.141G>A (p.Ala47=)
NM_005263.5(GFI1):c.149A>G (p.Glu50Gly)
NM_005263.5(GFI1):c.154C>T (p.Arg52Trp)
NM_005263.5(GFI1):c.155G>A (p.Arg52Gln)
NM_005263.5(GFI1):c.161G>A (p.Arg54His)
NM_005263.5(GFI1):c.167C>G (p.Ser56Cys)
NM_005263.5(GFI1):c.169C>T (p.Pro57Ser)
NM_005263.5(GFI1):c.170C>T (p.Pro57Leu)
NM_005263.5(GFI1):c.171C>G (p.Pro57=) rs200099018
NM_005263.5(GFI1):c.185C>T (p.Thr62Ile)
NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) rs1658344685
NM_005263.5(GFI1):c.201_221del (p.Arg67_Asp73del)
NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup) rs759646696
NM_005263.5(GFI1):c.208G>T (p.Ala70Ser) rs1400776565
NM_005263.5(GFI1):c.210A>G (p.Ala70=)
NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del) rs2101580166
NM_005263.5(GFI1):c.219C>G (p.Asp73Glu) rs1658340230
NM_005263.5(GFI1):c.232A>G (p.Ser78Gly)
NM_005263.5(GFI1):c.241G>A (p.Glu81Lys)
NM_005263.5(GFI1):c.251C>A (p.Ser84Ter)
NM_005263.5(GFI1):c.258T>G (p.Phe86Leu)
NM_005263.5(GFI1):c.268T>C (p.Trp90Arg)
NM_005263.5(GFI1):c.274C>T (p.Pro92Ser)
NM_005263.5(GFI1):c.276C>T (p.Pro92=) rs778939406
NM_005263.5(GFI1):c.278C>G (p.Pro93Arg)
NM_005263.5(GFI1):c.298+12C>G
NM_005263.5(GFI1):c.298+19C>T
NM_005263.5(GFI1):c.299-12G>C rs962841876
NM_005263.5(GFI1):c.299-17C>G
NM_005263.5(GFI1):c.299-19T>C rs867973488
NM_005263.5(GFI1):c.299-4A>T
NM_005263.5(GFI1):c.299-5del
NM_005263.5(GFI1):c.302C>T (p.Ser101Leu)
NM_005263.5(GFI1):c.30G>A (p.Lys10=)
NM_005263.5(GFI1):c.321A>G (p.Pro107=)
NM_005263.5(GFI1):c.322T>C (p.Ser108Pro) rs2101573712
NM_005263.5(GFI1):c.336C>T (p.Ala112=)
NM_005263.5(GFI1):c.347C>G (p.Pro116Arg) rs2101573617
NM_005263.5(GFI1):c.351G>A (p.Leu117=) rs2101573590
NM_005263.5(GFI1):c.376G>T (p.Gly126Cys) rs766732454
NM_005263.5(GFI1):c.383C>G (p.Ala128Gly)
NM_005263.5(GFI1):c.398G>C (p.Arg133Pro)
NM_005263.5(GFI1):c.398G>T (p.Arg133Leu)
NM_005263.5(GFI1):c.410A>G (p.Gln137Arg)
NM_005263.5(GFI1):c.426T>C (p.Cys142=)
NM_005263.5(GFI1):c.427G>A (p.Gly143Arg) rs1245223850
NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) rs1367385969
NM_005263.5(GFI1):c.451C>T (p.Leu151=) rs2101573018
NM_005263.5(GFI1):c.457C>A (p.Leu153Ile)
NM_005263.5(GFI1):c.459C>T (p.Leu153=)
NM_005263.5(GFI1):c.461dup (p.Cys155fs) rs1658216855
NM_005263.5(GFI1):c.46C>G (p.His16Asp) rs772644896
NM_005263.5(GFI1):c.477G>A (p.Pro159=) rs1249429892
NM_005263.5(GFI1):c.478G>A (p.Glu160Lys) rs2101572785
NM_005263.5(GFI1):c.481C>T (p.Pro161Ser)
NM_005263.5(GFI1):c.491C>T (p.Pro164Leu)
NM_005263.5(GFI1):c.492G>A (p.Pro164=)
NM_005263.5(GFI1):c.492G>T (p.Pro164=)
NM_005263.5(GFI1):c.508C>T (p.Pro170Ser)
NM_005263.5(GFI1):c.514C>A (p.Arg172=) rs1571216920
NM_005263.5(GFI1):c.514C>G (p.Arg172Gly) rs1571216920
NM_005263.5(GFI1):c.521C>T (p.Ala174Val)
NM_005263.5(GFI1):c.522C>G (p.Ala174=)
NM_005263.5(GFI1):c.52C>T (p.Pro18Ser) rs1658381767
NM_005263.5(GFI1):c.531G>A (p.Ala177=)
NM_005263.5(GFI1):c.533G>C (p.Gly178Ala) rs1329086426
NM_005263.5(GFI1):c.534G>T (p.Gly178=) rs1658207859
NM_005263.5(GFI1):c.538G>A (p.Gly180Arg) rs529448705
NM_005263.5(GFI1):c.539G>A (p.Gly180Glu)
NM_005263.5(GFI1):c.542C>A (p.Ala181Glu)
NM_005263.5(GFI1):c.548G>T (p.Gly183Val)
NM_005263.5(GFI1):c.558C>T (p.Ser186=) rs2101572104
NM_005263.5(GFI1):c.559G>T (p.Ala187Ser)
NM_005263.5(GFI1):c.577G>T (p.Ala193Ser) rs765205557
NM_005263.5(GFI1):c.57C>A (p.Arg19=) rs2101582509
NM_005263.5(GFI1):c.57C>T (p.Arg19=)
NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)
NM_005263.5(GFI1):c.607T>C (p.Phe203Leu)
NM_005263.5(GFI1):c.617C>A (p.Ala206Glu)
NM_005263.5(GFI1):c.636G>T (p.Glu212Asp)
NM_005263.5(GFI1):c.643A>G (p.Thr215Ala)
NM_005263.5(GFI1):c.644C>T (p.Thr215Met)
NM_005263.5(GFI1):c.65G>A (p.Gly22Glu)
NM_005263.5(GFI1):c.660G>T (p.Leu220Phe)
NM_005263.5(GFI1):c.669C>G (p.Pro223=) rs747582787
NM_005263.5(GFI1):c.675T>C (p.Arg225=)
NM_005263.5(GFI1):c.679C>G (p.His227Asp)
NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) rs779127899
NM_005263.5(GFI1):c.691G>T (p.Ala231Ser) rs1268992636
NM_005263.5(GFI1):c.701G>A (p.Gly234Asp)
NM_005263.5(GFI1):c.702C>T (p.Gly234=)
NM_005263.5(GFI1):c.709G>T (p.Val237Phe) rs906575632
NM_005263.5(GFI1):c.710T>C (p.Val237Ala)
NM_005263.5(GFI1):c.717G>C (p.Val239=) rs2101570871
NM_005263.5(GFI1):c.723G>C (p.Ser241=)
NM_005263.5(GFI1):c.729G>A (p.Leu243=) rs1658186951
NM_005263.5(GFI1):c.730C>T (p.Leu244=)
NM_005263.5(GFI1):c.731T>A (p.Leu244Gln)
NM_005263.5(GFI1):c.733T>G (p.Cys245Gly) rs775151292
NM_005263.5(GFI1):c.749T>C (p.Leu250Pro)
NM_005263.5(GFI1):c.752G>C (p.Gly251Ala)
NM_005263.5(GFI1):c.755G>T (p.Gly252Val)
NM_005263.5(GFI1):c.765C>A (p.Tyr255Ter)
NM_005263.5(GFI1):c.776A>G (p.Lys259Arg)
NM_005263.5(GFI1):c.783C>G (p.Ser261Arg)
NM_005263.5(GFI1):c.786+12G>A
NM_005263.5(GFI1):c.787-5C>T rs1156763305
NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) rs1658175649
NM_005263.5(GFI1):c.797C>T (p.Thr266Met) rs1658175470
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe) rs1658376438
NM_005263.5(GFI1):c.800C>T (p.Pro267Leu)
NM_005263.5(GFI1):c.822G>A (p.Val274=)
NM_005263.5(GFI1):c.82C>G (p.Arg28Gly)
NM_005263.5(GFI1):c.835A>G (p.Ser279Gly) rs1404247690
NM_005263.5(GFI1):c.837C>G (p.Ser279Arg) rs1658171658
NM_005263.5(GFI1):c.854C>T (p.Ala285Val) rs767464450
NM_005263.5(GFI1):c.863T>C (p.Met288Thr)
NM_005263.5(GFI1):c.869G>A (p.Gly290Asp)
NM_005263.5(GFI1):c.86T>A (p.Leu29Ter)
NM_005263.5(GFI1):c.923A>T (p.Gln308Leu) rs1658165455
NM_005263.5(GFI1):c.924+10G>C rs770009520
NM_005263.5(GFI1):c.924+13C>G
NM_005263.5(GFI1):c.924+6C>A
NM_005263.5(GFI1):c.924+6C>T
NM_005263.5(GFI1):c.924+8del
NM_005263.5(GFI1):c.924+9G>A
NM_005263.5(GFI1):c.924+9G>T rs1180814416
NM_005263.5(GFI1):c.925-40CT[11] rs35896485
NM_005263.5(GFI1):c.925-40CT[12] rs35896485
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[14] rs35896485
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[16] rs35896485
NM_005263.5(GFI1):c.925-40CT[17] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005263.5(GFI1):c.925-40CT[23] rs35896485
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005263.5(GFI1):c.925-40CT[26] rs35896485
NM_005263.5(GFI1):c.925-40CT[27] rs35896485
NM_005263.5(GFI1):c.925-40CT[28] rs35896485
NM_005263.5(GFI1):c.925-40CT[29]
NM_005263.5(GFI1):c.925-40CT[30] rs35896485
NM_005263.5(GFI1):c.925-40CT[31] rs35896485
NM_005263.5(GFI1):c.925-40CT[32] rs35896485
NM_005263.5(GFI1):c.925-40CT[34] rs35896485
NM_005263.5(GFI1):c.925-40CT[8] rs35896485
NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC rs1571213227
NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA rs1553162639
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT rs766365921
NM_005263.5(GFI1):c.925-9_925-8insTCTCTCTA rs1553162640
NM_005263.5(GFI1):c.928C>T (p.Arg310Trp)
NM_005263.5(GFI1):c.929G>A (p.Arg310Gln)
NM_005263.5(GFI1):c.942T>C (p.Cys314=)
NM_005263.5(GFI1):c.943A>G (p.Lys315Glu) rs1432200639
NM_005263.5(GFI1):c.979C>T (p.Leu327=)
NM_005263.5(GFI1):c.99G>C (p.Pro33=)

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