ClinVar Miner

List of variants in gene MED12 reported as pathogenic for FG syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.1924_1974+17dup
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519

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