ClinVar Miner

List of variants studied for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138576.4(BCL11B):c.1219C>T (p.Pro407Ser)
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs) rs2139759372
NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)
NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe) rs2139953989
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138576.4(BCL11B):c.334C>G (p.Pro112Ala)

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