ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 12
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HGVS dbSNP
NM_001127644.2(GABRA1):c.*2T>A rs762836110
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) rs376031361
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425
NM_001127644.2(GABRA1):c.704-10T>C rs188133840
NM_001127644.2(GABRA1):c.75-4del rs563768487
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396

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