ClinVar Miner

List of variants reported as benign for Sjögren-Larsson syndrome

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000382.3(ALDH3A2):c.153+39C>T rs4646793 0.26984
NM_000382.3(ALDH3A2):c.472-56G>A rs2072332 0.26925
NM_000382.3(ALDH3A2):c.471+31T>C rs1004491 0.25856
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877CA[1]
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.1207+130del rs59755039
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928

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