ClinVar Miner

List of variants in gene FGA reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NM_021871.4(FGA):c.1622del (p.Val541fs) rs587777761
NM_021871.4(FGA):c.1629del (p.Thr544fs) rs587777762
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) rs78506343
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225

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