ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00005

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