ClinVar Miner

List of variants in gene NAA15 reported as uncertain significance for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
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_057175.5(NAA15):c.2591A>G (p.Asn864Ser) rs201822171 0.00030
NM_057175.5(NAA15):c.1517A>G (p.Lys506Arg) rs994717258 0.00001
NM_057175.5(NAA15):c.2345G>A (p.Arg782Gln) rs776135982 0.00001
NM_057175.5(NAA15):c.771C>G (p.Asn257Lys) rs1189760005 0.00001
NM_057175.5(NAA15):c.143C>A (p.Thr48Asn) rs764328356
NM_057175.5(NAA15):c.1486A>G (p.Lys496Glu)
NM_057175.5(NAA15):c.1493T>G (p.Met498Arg) rs2110957042
NM_057175.5(NAA15):c.1540-8T>G rs1748137462
NM_057175.5(NAA15):c.1796_1798del (p.Gln599del)
NM_057175.5(NAA15):c.1815A>T (p.Lys605Asn) rs1748399304
NM_057175.5(NAA15):c.1933G>A (p.Glu645Lys)
NM_057175.5(NAA15):c.2218C>T (p.Arg740Cys)
NM_057175.5(NAA15):c.2333C>T (p.Ser778Phe) rs747017034
NM_057175.5(NAA15):c.233A>G (p.Lys78Arg) rs1747219477
NM_057175.5(NAA15):c.2537A>T (p.Asp846Val)
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164
NM_057175.5(NAA15):c.55-2863G>C rs2110888403
NM_057175.5(NAA15):c.706C>A (p.Gln236Lys)
NM_057175.5(NAA15):c.743G>A (p.Arg248Lys)
NM_057175.5(NAA15):c.814A>G (p.Asn272Asp)
NM_057175.5(NAA15):c.896A>G (p.Asn299Ser)
NM_057175.5(NAA15):c.997T>C (p.Tyr333His) rs1747780138

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