ClinVar Miner

List of variants in gene RSPRY1 reported as benign for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_133368.3(RSPRY1):c.1161+36T>C rs7206038 0.95456

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