ClinVar Miner

List of variants studied for Ogden syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) rs387906701
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr)
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) rs863225427
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.332T>G (p.Val111Gly) rs1557107528
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) rs587780563
NM_003491.4(NAA10):c.361C>G (p.Leu121Val) rs1557107462
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) rs878853263
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255

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