ClinVar Miner

List of variants in gene CASK reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) rs760957859 0.00001
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.2317+10G>C rs797045432
NM_001367721.1(CASK):c.429+4del rs797045434
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe) rs2147465356
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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