List of variants reported as pathogenic for Bryant-Li-Bhoj neurodevelopmental syndrome 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)	rs2102735801
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile)	rs1657901999
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	rs2102737050
NM_002107.7(H3-3A):c.362T>C (p.Met121Thr)
NM_002107.7(H3-3A):c.363G>A (p.Met121Ile)	rs2102742562
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)	rs1576203003
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)	rs1276519904
NM_002107.7(H3-3A):c.386G>A (p.Arg129His)	rs1658121882
NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly)	rs2102735576

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