ClinVar Miner

List of variants studied for Bryant-Li-Bhoj neurodevelopmental syndrome 1

Included ClinVar conditions (1):
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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.134G>A (p.Gly45Asp)
NM_002107.7(H3-3A):c.137C>A (p.Thr46Asn)
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile) rs1657901999
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly) rs1657904113
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050
NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser) rs1658118461
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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