ClinVar Miner

List of variants reported as uncertain significance for aplastic anemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218
NM_001114636.1(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del) rs1573532439
NM_001253383.3(RPL15):c.172+5G>A rs369956511
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) rs766299864
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_198253.3(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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