ClinVar Miner

List of variants in gene ALG1 reported by Ambry Genetics

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) rs145317306 0.00091
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.1006A>C (p.Lys336Gln)
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.1091T>G (p.Val364Gly)
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe) rs758274229
NM_019109.5(ALG1):c.237G>C (p.Gln79His)
NM_019109.5(ALG1):c.332C>T (p.Ala111Val)
NM_019109.5(ALG1):c.351G>C (p.Lys117Asn)
NM_019109.5(ALG1):c.461T>C (p.Ile154Thr)
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.647A>G (p.Asp216Gly)
NM_019109.5(ALG1):c.697C>G (p.Leu233Val)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
NM_019109.5(ALG1):c.776C>T (p.Ala259Val)
NM_019109.5(ALG1):c.781A>T (p.Thr261Ser)
NM_019109.5(ALG1):c.7G>A (p.Ala3Thr)
NM_019109.5(ALG1):c.886C>A (p.Leu296Met)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.988A>T (p.Ser330Cys)

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