ClinVar Miner

List of variants in gene CASK reported as uncertain significance for not specified

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Gene type:
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Total variants: 12
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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.524T>C (p.Val175Ala) rs781247892 0.00001
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser) rs2065666644
NM_001367721.1(CASK):c.1504-6T>A rs767346232
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.2155+4_2155+6delinsA rs752382791
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.761G>A (p.Arg254His) rs1569376084
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe) rs2147465356
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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