ClinVar Miner

List of variants in gene NAA15 studied for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_057175.5(NAA15):c.850T>G (p.Trp284Gly) rs202230897 0.00046
NM_057175.5(NAA15):c.2591A>G (p.Asn864Ser) rs201822171 0.00030
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_057175.5(NAA15):c.1093G>A (p.Gly365Arg)
NM_057175.5(NAA15):c.1183G>C (p.Glu395Gln)
NM_057175.5(NAA15):c.1237G>A (p.Val413Met)
NM_057175.5(NAA15):c.1328T>A (p.Phe443Tyr)
NM_057175.5(NAA15):c.1410+1G>A rs1553996876
NM_057175.5(NAA15):c.1447C>T (p.Gln483Ter)
NM_057175.5(NAA15):c.1466C>G (p.Thr489Arg)
NM_057175.5(NAA15):c.1672G>A (p.Ala558Thr)
NM_057175.5(NAA15):c.168_169del (p.Asn57fs) rs1747217573
NM_057175.5(NAA15):c.1696T>G (p.Leu566Val)
NM_057175.5(NAA15):c.1741G>A (p.Glu581Lys)
NM_057175.5(NAA15):c.1753G>A (p.Ala585Thr) rs1748144362
NM_057175.5(NAA15):c.182A>G (p.Lys61Arg)
NM_057175.5(NAA15):c.1942G>T (p.Ala648Ser)
NM_057175.5(NAA15):c.2043T>G (p.Ile681Met)
NM_057175.5(NAA15):c.2077C>T (p.Gln693Ter)
NM_057175.5(NAA15):c.209G>A (p.Arg70His)
NM_057175.5(NAA15):c.2111G>A (p.Ser704Asn) rs1748661689
NM_057175.5(NAA15):c.2219G>A (p.Arg740His)
NM_057175.5(NAA15):c.2298_2299dup (p.Ser767fs)
NM_057175.5(NAA15):c.2306C>T (p.Ala769Val)
NM_057175.5(NAA15):c.326G>A (p.Trp109Ter)
NM_057175.5(NAA15):c.338A>G (p.Asn113Ser)
NM_057175.5(NAA15):c.735T>A (p.Asp245Glu)
NM_057175.5(NAA15):c.739T>G (p.Tyr247Asp) rs1747710480
NM_057175.5(NAA15):c.880A>G (p.Arg294Gly)

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