ClinVar Miner

List of variants studied for Syndromic X-linked intellectual disability Najm type by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397

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