ClinVar Miner

List of variants reported as likely pathogenic for Glutaric aciduria, type 2

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Total variants: 10
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HGVS dbSNP
NM_004453.2(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.3(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.3(ETFDH):c.1285+1G>A rs767046886
NM_004453.3(ETFDH):c.1325C>T (p.Ser442Leu) rs1442766122
NM_004453.3(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004453.3(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387
NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.3(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.3(ETFDH):c.413T>G (p.Leu138Arg) rs779896449

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