List of variants in gene combination LRBA, MAB21L2 reported as uncertain significance for colobomatous microphthalmia-rhizomelic dysplasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006439.5(MAB21L2):c.457G>A (p.Ala153Thr)	rs139813980	0.00035
NM_006439.5(MAB21L2):c.287_295del (p.Gly96_Ala98del)	rs1771647082
NM_006439.5(MAB21L2):c.343G>T (p.Glu115Ter)	rs1328813338
NM_006439.5(MAB21L2):c.7G>A (p.Ala3Thr)	rs1771602801

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