ClinVar Miner

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

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_001114636.1(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001253383.3(RPL15):c.172+5G>A rs369956511
NM_001283010.1(RTEL1):c.-407C>T rs758172246
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016434.3(RTEL1):c.3343+8G>A rs768036242
NM_016434.3(RTEL1):c.732G>A (p.Gly244=) rs919917378
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)
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_032957.4(RTEL1):c.2672C>T (p.Pro891Leu) rs139083375
NM_032957.4(RTEL1):c.712A>T (p.Asn238Tyr) rs746411863
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.6(FANCD2):c.1757C>T (p.Ala586Val)
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)

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