ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance for Epilepsy, idiopathic generalized, susceptibility to, 13

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*1697A>G rs75337618 0.01133
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.*2035G>A rs73317010 0.00933
NM_001127644.2(GABRA1):c.-16+8C>A rs138671319 0.00544
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_001127644.2(GABRA1):c.*2098C>T rs147837301 0.00428
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.*1821T>G rs10059108 0.00427
NM_000806.5(GABRA1):c.-449G>C rs190043578 0.00355
NM_001127644.2(GABRA1):c.*2523A>C rs567624810 0.00224
NM_001127644.2(GABRA1):c.*988A>G rs182930988 0.00140
NM_001127644.2(GABRA1):c.-162G>A rs547029877 0.00121
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.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_000806.5(GABRA1):c.-405T>C rs181962869 0.00059
NM_001127644.2(GABRA1):c.*630T>C rs578077816 0.00046
NM_001127644.2(GABRA1):c.*401G>A rs541504060 0.00041
NM_001127644.2(GABRA1):c.*433G>C rs140183311 0.00038
NM_001127644.2(GABRA1):c.*1781T>C rs952357734 0.00022
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.*1601T>G rs886060369 0.00019
NM_001127644.2(GABRA1):c.*398A>C rs374845401 0.00015
NM_001127644.2(GABRA1):c.*1324T>C rs866632459 0.00012
NM_001127644.2(GABRA1):c.*1426A>G rs952390349 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001127644.2(GABRA1):c.*1984T>C rs1015675139 0.00011
NM_001127644.2(GABRA1):c.-252T>C rs766490931 0.00011
NM_001127644.2(GABRA1):c.-220T>C rs186477194 0.00010
NM_001127644.2(GABRA1):c.*2009G>C rs139565984 0.00008
NM_001127644.2(GABRA1):c.*2279G>A rs575186628 0.00008
NM_001127644.2(GABRA1):c.*456C>T rs945683052 0.00008
NM_001127644.2(GABRA1):c.*213C>T rs886060362 0.00006
NM_001127644.2(GABRA1):c.*1512G>A rs886060368 0.00005
NM_001127644.2(GABRA1):c.*413G>A rs886060365 0.00005
NM_001127644.2(GABRA1):c.*771C>T rs886060366 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_000806.5(GABRA1):c.-439A>G rs886060357 0.00004
NM_001127644.2(GABRA1):c.*438A>C rs1041886081 0.00004
NM_001127644.2(GABRA1):c.*1685C>T rs1442411830 0.00003
NM_001127644.2(GABRA1):c.*325T>A rs76047934 0.00003
NM_001127644.2(GABRA1):c.*993C>T rs1013417216 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_000806.5(GABRA1):c.-455G>A rs531705924 0.00002
NM_001127644.2(GABRA1):c.*1061T>C rs374002978 0.00002
NM_001127644.2(GABRA1):c.*1425T>C rs919551233 0.00002
NM_001127644.2(GABRA1):c.*1609A>C rs1231156247 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.*1359T>C rs1164629079 0.00001
NM_001127644.2(GABRA1):c.*1686G>A rs1561590547 0.00001
NM_001127644.2(GABRA1):c.*1971T>C rs886060372 0.00001
NM_001127644.2(GABRA1):c.*2334C>T rs886060373 0.00001
NM_001127644.2(GABRA1):c.*838G>A rs940074128 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.856+11A>G rs564871157 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_000806.5(GABRA1):c.-248+5C>T rs932077882
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-399C>T rs1581171032
NM_000806.5(GABRA1):c.-447G>C rs184629690
NM_000806.5(GABRA1):c.-447G>T rs184629690
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_001127644.2(GABRA1):c.*1319A>G rs886060367
NM_001127644.2(GABRA1):c.*1443A>G rs575959204
NM_001127644.2(GABRA1):c.*1526A>G rs540638714
NM_001127644.2(GABRA1):c.*1611G>A rs903295997
NM_001127644.2(GABRA1):c.*1659A>G rs886060370
NM_001127644.2(GABRA1):c.*1749T>C rs1755506626
NM_001127644.2(GABRA1):c.*1837C>G rs886060371
NM_001127644.2(GABRA1):c.*1938A>G rs1755514760
NM_001127644.2(GABRA1):c.*242C>G rs1755432560
NM_001127644.2(GABRA1):c.*302A>G rs886060364
NM_001127644.2(GABRA1):c.*580G>A rs534982201
NM_001127644.2(GABRA1):c.*580G>T rs534982201
NM_001127644.2(GABRA1):c.*826G>A rs957754896
NM_001127644.2(GABRA1):c.-10C>G rs376699435
NM_001127644.2(GABRA1):c.-15-5T>G rs1757413235
NM_001127644.2(GABRA1):c.-195A>G rs886060359
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) rs145217327
NM_001127644.2(GABRA1):c.191G>A (p.Arg64His) rs1753807587
NM_001127644.2(GABRA1):c.234A>C (p.Gly78=) rs1753809692
NM_001127644.2(GABRA1):c.243A>C (p.Ser81=) rs1362339390
NM_001127644.2(GABRA1):c.703+8C>A rs376693195

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