ClinVar Miner

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

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_022893.4(BCL11A):c.1078dup (p.Leu360fs) rs768799046
NM_022893.4(BCL11A):c.1118dup (p.Val374fs) rs2103850595
NM_022893.4(BCL11A):c.1345del (p.Glu449fs) rs2103845910
NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro) rs886037864
NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)
NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe) rs886037865
NM_022893.4(BCL11A):c.1442del (p.Glu481fs)
NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter)
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.1663A>T (p.Met555Leu) rs770356174
NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup) rs886037867
NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs) rs2103830741
NM_022893.4(BCL11A):c.198C>A (p.His66Gln) rs886037866
NM_022893.4(BCL11A):c.1A>G (p.Met1Val) rs1573109761
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_022893.4(BCL11A):c.35T>G (p.Leu12Ter) rs2104801226
NM_022893.4(BCL11A):c.385+2T>C rs1553352926
NM_022893.4(BCL11A):c.3G>A (p.Met1Ile) rs2104801406
NM_022893.4(BCL11A):c.512_519del (p.Thr171fs) rs2103863117
NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter) rs1553403736
NM_022893.4(BCL11A):c.759_769del (p.Leu254fs)
NM_022893.4(BCL11A):c.875del (p.His292fs)

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