ClinVar Miner

List of variants reported for Sjögren-Larsson syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)	rs2544349490
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)	rs2544405849
NM_000382.3(ALDH3A2):c.798+1del	rs757359379

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