ClinVar Miner

List of variants in gene GABRA1 studied for Inborn genetic diseases

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
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.1086T>C (p.Ile362=) rs187648029 0.00015
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) rs756553428 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.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=) rs750394365 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.1180A>G (p.Thr394Ala) rs1414103631 0.00001
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro) rs762939760 0.00001
NM_001127644.2(GABRA1):c.477-5T>C rs779231183 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) rs769743354 0.00001
NM_001127644.2(GABRA1):c.972G>T (p.Val324=) rs145617915 0.00001
NM_001127644.2(GABRA1):c.1002A>G (p.Val334=)
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu) rs80337021
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) rs775344663
NM_001127644.2(GABRA1):c.1204C>T (p.Pro402Ser)
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys) rs775157869
NM_001127644.2(GABRA1):c.1210A>C (p.Thr404Pro)
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=) rs1755413332
NM_001127644.2(GABRA1):c.1313A>G (p.Tyr438Cys) rs1312078830
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001127644.2(GABRA1):c.199G>T (p.Glu67Ter)
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
NM_001127644.2(GABRA1):c.318A>G (p.Gly106=)
NM_001127644.2(GABRA1):c.327A>C (p.Thr109=) rs897003492
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe) rs1554085513
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
NM_001127644.2(GABRA1):c.658C>T (p.Leu220Phe)
NM_001127644.2(GABRA1):c.727C>G (p.His243Asp)
NM_001127644.2(GABRA1):c.74+4G>A
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala) rs1755063375

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