ClinVar Miner

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

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
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.*1752G>T rs41303356 0.00066
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.1284G>A (p.Pro428=) rs74873701 0.00004
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.1234A>T (p.Thr412Ser) rs1229633395 0.00002
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.1156T>G (p.Leu386Val) rs771316858 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_000806.5(GABRA1):c.-447G>C rs184629690
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.1019G>C (p.Arg340Thr)
NM_001127644.2(GABRA1):c.1105G>T (p.Ala369Ser)
NM_001127644.2(GABRA1):c.1159G>A (p.Ala387Thr)
NM_001127644.2(GABRA1):c.1280T>C (p.Phe427Ser) rs2113470382
NM_001127644.2(GABRA1):c.1292T>C (p.Phe431Ser)
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
NM_001127644.2(GABRA1):c.499C>T (p.Pro167Ser) rs1581200203
NM_001127644.2(GABRA1):c.614C>T (p.Ser205Leu)
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.829G>C (p.Glu277Gln) rs1064797317
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile) rs796052495
NM_001127644.2(GABRA1):c.991T>A (p.Phe331Ile) rs1755338529

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