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

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Total variants: 12

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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.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
NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	rs2143630846
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	rs2061653458
NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg)	rs2143629995
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005324.5(H3-3B):c.88G>C (p.Ala30Pro)	rs2143631293

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