ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NR_023343.3(RNU4ATAC):n.40C>T	rs139495292
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449

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