ClinVar Miner

List of variants reported as pathogenic for Sjogren-Larsson syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
NM_000382.3(ALDH3A2):c.1293_1294GA[2] (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571

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