ClinVar Miner

List of variants studied for Olmsted syndrome, X-linked

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015884.4(MBTPS2):c.124G>A (p.Gly42Arg) rs375900835 0.00002
NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) rs587777306
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)
NM_015884.4(MBTPS2):c.670+2688G>C

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