ClinVar Miner

List of variants reported for Immunodeficiency 66 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020831.6(MRTFA):c.2245C>A (p.Leu749Ile) rs144758927 0.00126
NM_020831.6(MRTFA):c.2023G>A (p.Val675Met) rs749760507 0.00042
NM_020831.6(MRTFA):c.1907C>T (p.Ala636Val) rs376881633 0.00012
NM_020831.6(MRTFA):c.1304C>T (p.Ser435Leu) rs767517879 0.00007
NM_020831.6(MRTFA):c.1657G>A (p.Val553Met) rs543904613
NM_020831.6(MRTFA):c.1916G>A (p.Arg639His) rs370664004
NM_020831.6(MRTFA):c.2518-15del rs367823907

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