ClinVar Miner

List of variants in gene GABRA1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_000806.5(GABRA1):c.-449G>C rs190043578 0.00355
NM_001127644.2(GABRA1):c.*988A>G rs182930988 0.00140
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.*771C>T rs886060366 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=) rs201133616 0.00004
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=) rs1219475284 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500 0.00002
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=) rs771832995 0.00001
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=) rs756299135 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_001127644.2(GABRA1):c.*1823del
NM_001127644.2(GABRA1):c.-113C>T rs1267898463
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.1105G>T (p.Ala369Ser)

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