ClinVar Miner

List of variants in gene CASK studied for FG syndrome 4

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) rs754713652 0.00001
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe) rs777220099 0.00001
NC_000023.10:g.(?_41387096)_(41396627_?)del
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile)
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys) rs2147201432
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile) rs2147201250
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.172+5_172+6delinsAT
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) rs2064853222
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln) rs1235769310
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001367721.1(CASK):c.2521-2A>T rs398122845
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg) rs137852819
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly) rs1569429756
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) rs137852816
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr) rs1012863843
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001367721.1(CASK):c.916-1G>A rs2066382876

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