ClinVar Miner

List of variants reported for Roifman syndrome by Undiagnosed Diseases Network, NIH

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NR_023343.3(RNU4ATAC):n.116A>G rs982261295
NR_023343.3(RNU4ATAC):n.40C>T rs139495292
NR_023343.3(RNU4ATAC):n.50G>A rs181195449

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