ClinVar Miner

List of variants reported as pathogenic for Glutaric aciduria, type 1 by National Institute of Mental Health and Neurosciences

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly) rs771924230
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter) rs147611168
NM_000159.4(GCDH):c.296A>G (p.Glu99Gly) rs1294124984
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro) rs878853154
NM_000159.4(GCDH):c.456C>G (p.Ile152Met) rs878853153
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.701G>C (p.Arg234Pro) rs1203022386
NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer) rs869025300

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