ClinVar Miner

List of variants in gene BCL11A reported as pathogenic for Dias-Logan syndrome

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NC_000002.12:g.60545969A>G
NM_018014.4(BCL11A):c.198C>A (p.His66Gln) rs886037866
NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro) rs886037864
NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe) rs886037865
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup) rs886037867
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119

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