ClinVar Miner

List of variants in gene FAT4 studied for Van Maldergem syndrome 2

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Total variants: 19
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HGVS dbSNP
NM_001291303.1(FAT4):c.10560G>A (p.Met3520Ile) rs144506470
NM_001291303.1(FAT4):c.11800+1G>T rs963302668
NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys)
NM_001291303.3(FAT4):c.13402G>A (p.Val4468Met)
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala) rs200138872
NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811
NM_024582.4(FAT4):c.10571G>A (p.Gly3524Asp) rs1567047
NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter) rs398122957
NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn) rs12650153
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.13393G>A (p.Val4465Met) rs1215405311
NM_024582.4(FAT4):c.13519G>C (p.Ala4507Pro) rs1553931010
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.8015A>T (p.Asp2672Val) rs138655269
NM_024582.4(FAT4):c.9481G>T (p.Glu3161Ter) rs370088878

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