ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00595
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) rs141790702 0.00424
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.600A>G (p.Val200=) rs147738759 0.00024
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) rs141158465 0.00013
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384 0.00011
NM_001367721.1(CASK):c.1860A>G (p.Gln620=) rs773445513 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00001
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) rs760957859 0.00001
NM_001367721.1(CASK):c.1155+1G>T
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) rs587783357
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.1683dup (p.Ser562fs) rs2147151260
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_001367721.1(CASK):c.1981del (p.Leu661fs) rs797045431
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) rs587783362
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg) rs587783363
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.2317+10G>C rs797045432
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) rs749742837
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) rs587783364
NM_001367721.1(CASK):c.2521-2A>T rs398122845
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs) rs797045433
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) rs1555972628
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.429+4del rs797045434
NM_001367721.1(CASK):c.430-2A>T rs587783366
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.708+1G>A rs587783368
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe) rs2147465356
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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