ClinVar Miner

List of variants studied for Sjögren-Larsson syndrome by Genome-Nilou Lab

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Total variants: 7
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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.940+53C>G rs1800869 0.19359
NM_000382.3(ALDH3A2):c.1207+130del rs59755039
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928

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