ClinVar Miner

List of variants studied for inherited aplastic anemia by OMIM

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032444.4(SLX4):c.1163+2T>A rs773642409 0.00001
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
NC_000012.10:g.54711095_54731551del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NG_009890.2:g.(5565_6559)_(8796_9460)del
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) rs1568425218
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018115.1:c.1414_1545del
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001019.5(RPS15A):c.213G>A (p.Lys71=) rs1567287990
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.201_202del (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001253384.2(RPL15):c.309+91_361-539del
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro) rs1895530875
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) rs587776907
NM_007055.3(POLR3A):c.-6128_-995del
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) rs1564307664
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_020207.7(ERCC6L2):c.1203_1206del (p.Thr402fs) rs886037662
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.534del (p.Lys179fs) rs2133797515
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) rs2150610519
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219
NM_182922.4(HEATR3):c.399+1G>T rs2150594383
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg) rs1184398890
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu) rs2150600578
RPL5, 5-BP DEL/39-BP INS, NT498

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