ClinVar Miner

List of variants in gene CASK reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369

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