ClinVar Miner

List of variants in gene NAA10 reported as pathogenic for NAA10-related syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) rs387906701
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.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) rs2065171820
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)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro) rs2065169457
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003491.4(NAA10):c.455_458del (p.Thr152fs) rs2148534324
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003491.4(NAA10):c.472-2A>C rs2065158556
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255

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