ClinVar Miner

List of variants reported as benign for aplastic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000987.5(RPL26):c.-5-16_-5-15del rs533883480
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_018062.4(FANCL):c.273+19dup rs372101290

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.