ClinVar Miner

List of variants studied for FG syndrome 4

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Total variants: 37
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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.1345C>T (p.His449Tyr) rs2519819247 0.00003
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe) rs777220099 0.00002
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) rs754713652 0.00001
NC_000023.10:g.(?_41387096)_(41396627_?)del
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile) rs2518967628
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.1447G>C (p.Glu483Gln)
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg) rs2147179382
NM_001367721.1(CASK):c.172+5_172+6delinsAT rs2519892333
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.2311A>G (p.Ile771Val)
NM_001367721.1(CASK):c.2324C>G (p.Thr775Ser) rs2519688829
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln) rs1235769310
NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys) rs192044507
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001367721.1(CASK):c.2521-2A>T rs398122845
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.364_365delinsGA (p.Met122Glu) rs2519495064
NM_001367721.1(CASK):c.464C>T (p.Ser155Leu) rs2519234687
NM_001367721.1(CASK):c.539T>A (p.Val180Asp) rs2519216387
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.761G>A (p.Arg254His) rs1569376084
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
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.847G>A (p.Ala283Thr) rs1012863843
NM_001367721.1(CASK):c.916-1G>A rs2066382876

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