ClinVar Miner

List of variants in gene FAT4 reported as pathogenic for Van Maldergem syndrome 2

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Total variants: 7
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HGVS dbSNP
NM_001291303.1(FAT4):c.11800+1G>T rs963302668
NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter) rs398122957
NM_024582.4(FAT4):c.12476G>T (p.Cys4159Phe) rs398122953
NM_024582.4(FAT4):c.13193G>A (p.Cys4398Tyr) rs398122954
NM_024582.4(FAT4):c.14512_14513del (p.Ser4838fs) rs398122956
NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_024582.4(FAT4):c.9481G>T (p.Glu3161Ter) rs370088878

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