ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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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_001113378.1(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_001113378.1(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_018062.3(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.3(FANCL):c.548_550TAA[1] (p.Ile184del)
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071

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