ClinVar Miner

List of variants studied for Lowry-Wood syndrome by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NC_000002.12:g.121530990G>A rs763500364
NM_001395891.1(CLASP1):c.196-562G>T rs370715569
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NR_023343.3(RNU4ATAC):n.114G>C rs558667045
NR_023343.3(RNU4ATAC):n.120T>G rs1281131043
NR_023343.3(RNU4ATAC):n.46G>A rs1032667950
NR_023343.3(RNU4ATAC):n.5A>C rs533487249

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