ClinVar Miner

List of variants in gene FGD4 reported as pathogenic by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1402del (p.Gln468fs) rs1393673267 0.00004
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter) rs751404531 0.00001
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter) rs899737461 0.00001
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter) rs778377449 0.00001
NC_000012.11:g.(?_32729292)_(32793467_?)del
NC_000012.12:g.(?_32576256)_(32640543_?)del
NC_000012.12:g.(?_32576352)_(32619876_?)del
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter) rs201676628
NM_001370298.3(FGD4):c.1051del (p.Leu351fs) rs1948089932
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter) rs1948408994
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1454del (p.Pro485fs) rs1592387932
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) rs2136932206
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs) rs1401878479
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs) rs1555223595
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs) rs2137076976
NM_001370298.3(FGD4):c.2452del (p.Gln818fs) rs1060501904
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs) rs1951100155
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
NM_001370298.3(FGD4):c.616del (p.Gln206fs) rs2136432373
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)

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