ClinVar Miner

List of variants in gene BCL11A studied for Inborn genetic diseases

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys) rs146235767 0.00005
NM_022893.4(BCL11A):c.1076C>G (p.Pro359Arg)
NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val) rs746326118
NM_022893.4(BCL11A):c.1078C>T (p.Leu360Phe)
NM_022893.4(BCL11A):c.1710T>A (p.His570Gln)
NM_022893.4(BCL11A):c.1929C>G (p.Asp643Glu)
NM_022893.4(BCL11A):c.193G>C (p.Glu65Gln)
NM_022893.4(BCL11A):c.2035T>G (p.Ser679Ala)
NM_022893.4(BCL11A):c.203G>A (p.Arg68Gln)
NM_022893.4(BCL11A):c.2093G>A (p.Arg698His)
NM_022893.4(BCL11A):c.2161A>G (p.Ser721Gly)
NM_022893.4(BCL11A):c.2186G>A (p.Gly729Asp)
NM_022893.4(BCL11A):c.2194dup (p.Arg732fs) rs1676202186
NM_022893.4(BCL11A):c.26C>T (p.Pro9Leu) rs1670494769
NM_022893.4(BCL11A):c.355G>A (p.Gly119Arg)
NM_022893.4(BCL11A):c.385+2T>C rs1553352926
NM_022893.4(BCL11A):c.399C>G (p.His133Gln) rs1324772694
NM_022893.4(BCL11A):c.55+1G>A rs1670493597
NM_022893.4(BCL11A):c.56-1G>C rs1553353092
NM_022893.4(BCL11A):c.64C>G (p.Leu22Val)
NM_022893.4(BCL11A):c.65T>C (p.Leu22Pro)
NM_022893.4(BCL11A):c.794del (p.Leu265fs) rs1676346981
NM_022893.4(BCL11A):c.80C>G (p.Thr27Arg)

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