ClinVar Miner

List of variants studied for Sjögren-Larsson syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702 0.00002
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) rs768290318 0.00001
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1108-1G>C rs1036733598
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs) rs886039304
NM_000382.3(ALDH3A2):c.385+2T>C rs2084819840
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.680+1G>A
NM_000382.3(ALDH3A2):c.681-1G>A
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.798+1del rs757359379
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) rs730880264

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