ClinVar Miner

List of variants in gene BCL11A reported as uncertain significance 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.1925T>G (p.Phe642Cys) rs146235767 0.00005
NM_022893.4(BCL11A):c.1283T>A (p.Met428Lys) rs773213221 0.00002
NM_001363864.1(BCL11A):c.2281-2A>C
NM_018014.4(BCL11A):c.2231-5dup rs113307140
NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp) rs1265922527
NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val) rs746326118
NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser) rs1676309768
NM_022893.4(BCL11A):c.127C>T (p.His43Tyr)
NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)
NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg) rs1670145300
NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)
NM_022893.4(BCL11A):c.15G>A (p.Lys5=) rs2104801368
NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)
NM_022893.4(BCL11A):c.1656C>T (p.Leu552=)
NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val)
NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser)
NM_022893.4(BCL11A):c.2138G>A (p.Arg713His) rs554884428
NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)
NM_022893.4(BCL11A):c.317C>T (p.Thr106Met) rs1670134440
NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)
NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)
NM_022893.4(BCL11A):c.791C>G (p.Pro264Arg)
NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)

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