ClinVar Miner

List of variants reported as benign for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_001127644.2(GABRA1):c.857-18T>C rs78782356 0.05705
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.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.74+19A>G rs370522819 0.00020
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) rs187648029 0.00015
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=) rs756876744 0.00002
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly) rs1755418006 0.00001
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg) rs1235304350 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718 0.00001
NM_001127644.2(GABRA1):c.857-3C>T rs1323709924 0.00001
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg) rs111452646 0.00001
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu) rs80337021
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser) rs2113469507
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) rs1755409878
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr) rs2113354212
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg) rs1217531305
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val) rs2113381084
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile) rs759786297
NM_001127644.2(GABRA1):c.74+16del
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-4dup rs563768487
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859

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