ClinVar Miner

List of variants in gene combination ALDH4A1, LOC120893116 reported as uncertain significance for amino acid metabolism disease

Included ClinVar conditions (436):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625 0.00026
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740 0.00008
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375 0.00001
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368 0.00001
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg) rs1156594126
NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)
NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser) rs2100553228
NM_003748.4(ALDH4A1):c.1460+15C>T rs371777923

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