ClinVar Miner

List of variants reported as likely benign for Gamma-aminobutyric acid transaminase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.*1202G>A rs75730008 0.00704
NM_020686.6(ABAT):c.*1075C>T rs117516993 0.00462
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.*2629G>A rs186857840 0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.*989T>C rs533930699 0.00021
NM_020686.6(ABAT):c.*2074A>C rs191157077 0.00006
NM_020686.6(ABAT):c.*539C>T rs548945558 0.00004
NM_020686.6(ABAT):c.*1311C>A rs532670980 0.00001
NM_020686.6(ABAT):c.*1765TTCA[2] rs148513949
NM_020686.6(ABAT):c.*3039del rs766850207
NM_020686.6(ABAT):c.*3110_*3113del rs147433667

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