ClinVar Miner

List of variants reported as likely pathogenic for Tatton-Brown-Rahman overgrowth syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022552.5(DNMT3A):c.855+1G>A	rs772041639
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter)	rs944608317
NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg)	rs1180980391

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