ClinVar Miner

List of variants reported as likely pathogenic for Osteodysplastic primordial dwarfism, type 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NR_023343.1:n.30G>A rs374299350 0.00005
NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]
NM_001395891.1(CLASP1):c.196-583A>C
NM_001395891.1(CLASP1):c.196-589T>G
NM_001395891.1(CLASP1):c.196-594G>A rs139495292
NM_001395891.1(CLASP1):c.196-600C>A
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_023343.1:c.55G>A

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