ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496

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