ClinVar Miner

List of variants reported as pathogenic for FG syndrome 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2506-2A>T rs398122845
NM_003688.3(CASK):c.2740T>C (p.Trp914Arg) rs137852819
NM_003688.3(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_003688.3(CASK):c.83G>T (p.Arg28Leu) rs137852816
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_003688.3(CASK):c.913_914dup (p.Gly306fs) rs1602386709

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