ClinVar Miner

List of variants in gene H3-3A studied for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002107.7(H3-3A):c.107T>C (p.Val36Ala) rs1576199734
NM_002107.7(H3-3A):c.128+6A>T
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile) rs1657901999
NM_002107.7(H3-3A):c.244G>C (p.Asp82His) rs1657903750
NM_002107.7(H3-3A):c.245A>G (p.Asp82Gly) rs1657903845
NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser) rs1658118461
NM_002107.7(H3-3A):c.337A>G (p.Ile113Val) rs1658119267
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg) rs1576203003
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904

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