ClinVar Miner

List of variants reported as pathogenic for FG syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
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)
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528

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