ClinVar Miner

List of variants studied for Dias-Logan syndrome by Baylor Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp) rs1265922527
NM_022893.4(BCL11A):c.1345del (p.Glu449fs) rs2103845910
NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg) rs1670145300
NM_022893.4(BCL11A):c.270C>G (p.Ile90Met) rs1446265434
NM_022893.4(BCL11A):c.512_519del (p.Thr171fs) rs2103863117

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