ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NC_000016.10:g.3589688_3589702delGGTGGTGTCTGGGGC
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_000064.3(C3):c.2951-9_2951-4CTG[1]
NM_000186.3(CFH):c.2461C>T (p.His821Tyr)
NM_000186.3(CFH):c.481G>T (p.Ala161Ser)
NM_000204.4(CFI):c.1532C>T (p.Ala511Val)
NM_000355.3(TCN2):c.1168G>A (p.Gly390Arg)
NM_000355.3(TCN2):c.1195C>G (p.Arg399Gly)
NM_000355.3(TCN2):c.1235A>G (p.Tyr412Cys)
NM_000355.3(TCN2):c.809C>T (p.Ala270Val) rs201392026
NM_000361.2(THBD):c.683C>T (p.Pro228Leu)
NM_001113378.1(FANCI):c.1743A>C (p.Glu581Asp)
NM_001113378.1(FANCI):c.557T>C (p.Leu186Pro)
NM_001114636.1(FANCL):c.147_148delGAinsTT (p.Lys49_Asn50delinsAsnTyr)
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)
NM_001253383.3(RPL15):c.172+5G>A
NM_001283009.1(RTEL1):c.263C>T (p.Ser88Phe)
NM_001283009.1(RTEL1):c.3343+8G>A
NM_001283009.1(RTEL1):c.732G>A (p.Gly244=)
NM_002485.4(NBN):c.390A>G (p.Gln130=)
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=)
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=)
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=)
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.584C>T (p.Ala195Val)
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_018081.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741
NM_018081.2(WRAP53):c.550A>C (p.Ile184Leu)
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)
NM_032957.4(RTEL1):c.712A>T (p.Asn238Tyr)
NM_033084.4(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_139276.2(STAT3):c.2228G>T (p.Gly743Val) rs151033214
NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) rs377639087
NM_198253.2(TERT):c.2221G>A (p.Val741Met) rs150819225

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