ClinVar Miner

List of variants reported as likely benign for Diastrophic dysplasia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_000112.4(SLC26A2):c.*4870dup rs368872246 0.00983
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_000112.4(SLC26A2):c.*4419A>C rs140200789

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