ClinVar Miner

List of variants in gene NAA10 studied for syndromic intellectual disability

Included ClinVar conditions (203):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003491.4(NAA10):c.179+20G>A rs199988253 0.00014
NM_003491.4(NAA10):c.469G>A (p.Glu157Lys) rs1557107264 0.00001
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) rs1360898468 0.00001
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.112T>G (p.Trp38Gly) rs2148536647
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) rs1603290816
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) rs1557107942
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) rs863225427
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)
NM_003491.4(NAA10):c.190C>T (p.Pro64Ser) rs2148535394
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.244C>T (p.Arg82Trp)
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) rs2065171820
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003491.4(NAA10):c.295A>T (p.Ile99Leu) rs2148535236
NM_003491.4(NAA10):c.303C>A (p.Asn101Lys) rs781871487
NM_003491.4(NAA10):c.303C>G (p.Asn101Lys) rs781871487
NM_003491.4(NAA10):c.30C>G (p.Asp10Glu) rs2148536720
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.347G>A (p.Arg116Gln) rs2065169655
NM_003491.4(NAA10):c.361C>G (p.Leu121Val) rs1557107462
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) rs1603290291
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.387-1G>A
NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr) rs2148534337
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) rs2065162376
NM_003491.4(NAA10):c.439A>G (p.Met147Val)
NM_003491.4(NAA10):c.440T>C (p.Met147Thr) rs1057518605
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.472-38C>G rs2065158858
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255

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