ClinVar Miner

List of variants studied for Tatton-Brown-Rahman overgrowth syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg) rs758151481 0.00003
NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys) rs758534627 0.00001
NM_022552.5(DNMT3A):c.1036_1040del (p.Pro346fs)
NM_022552.5(DNMT3A):c.1776C>A (p.Tyr592Ter)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594

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