ClinVar Miner

List of variants in gene SMARCD2 reported as pathogenic by Hauner Childrens Hospital, Department of Pediatrics, Dr. von Hauner Children's Hospital; Ludwig Maximilians University

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001098426.2(SMARCD2):c.1181+1G>A rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) rs1555580263

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