ClinVar Miner

List of variants reported as uncertain significance for FG syndrome 1 by Invitae

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser) rs1415832392 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 0.00001
NC_000023.10:g.(?_69748945)_(70644108_?)dup
NC_000023.10:g.(?_70338585)_(70362088_?)del
NC_000023.10:g.(?_70338585)_(70362088_?)dup
NC_000023.10:g.(?_70348944)_(70350084_?)dup
NC_000023.10:g.(?_70348958)_(70350070_?)dup
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NM_005120.3(MED12):c.4048-3C>T
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu) rs2092350107

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