ClinVar Miner

List of variants studied for anemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) rs189103810 0.00106
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) rs187921784 0.00106
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile) rs1180420541 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_002948.5(RPL15):c.172+5G>A rs369956511 0.00004
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser) rs781838735 0.00004
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) rs1225307143 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn) rs759609268 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194 0.00001
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe) rs755754734 0.00001
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000969.5(RPL5):c.122_144del (p.Lys41fs) rs2100676969
NM_000987.5(RPL26):c.168+6T>G
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) rs200874455
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) rs766299864
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) rs786204086
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr) rs876659936
NM_138477.4(CDAN1):c.2868+4C>T rs749746339
NM_182916.3(TRNT1):c.608+6A>T rs747803738
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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