ClinVar Miner

List of variants in gene combination CLASP1, RNU4ATAC reported as pathogenic for not provided

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Total variants: 17
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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.8C>T rs370715569 0.00025
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NR_023343.3(RNU4ATAC):n.118T>C rs863225423 0.00002
NC_000002.12:g.121530892C>G
NC_000002.12:g.121530990G>A rs763500364
NC_000002.12:g.121530996A>G rs558135361
NC_000002.12:g.121531003G>T
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001395891.1(CLASP1):c.196-670T>G rs982261295
NR_023343.3(RNU4ATAC):n.40C>T rs139495292
NR_023343.3(RNU4ATAC):n.46G>A rs1032667950
NR_023343.3(RNU4ATAC):n.55G>A rs575472572

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