ClinVar Miner

List of variants reported for Osteodysplastic primordial dwarfism, type 1 by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NR_023343.1:n.30G>A rs374299350 0.00005
NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]
NM_001395891.1(CLASP1):c.196-594G>A rs139495292

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