ClinVar Miner

List of variants reported as benign for Succinate-semialdehyde dehydrogenase deficiency by Invitae

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) rs4646832 0.02421
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys) rs569456241 0.00009
NM_001080.3(ALDH5A1):c.870+14G>A rs375583348 0.00004
NM_001080.3(ALDH5A1):c.675C>T (p.Val225=) rs776598651 0.00001
NM_001080.3(ALDH5A1):c.315C>T (p.Ala105=)
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664

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