ClinVar Miner

List of variants in gene FGD1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.-13C>T rs763191233 0.00111
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) rs142114385 0.00066
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00040
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_004463.3(FGD1):c.440G>A (p.Arg147His) rs200707592 0.00007
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004463.3(FGD1):c.2167C>T (p.Arg723Trp) rs370970773 0.00002
NM_004463.3(FGD1):c.771C>T (p.Pro257=) rs757589705 0.00002
NM_004463.3(FGD1):c.2023G>A (p.Glu675Lys) rs1467677907 0.00001
NM_004463.3(FGD1):c.319G>C (p.Gly107Arg) rs1569541280 0.00001
NM_004463.3(FGD1):c.373C>A (p.Pro125Thr) rs749800625 0.00001
NM_004463.3(FGD1):c.714C>T (p.Pro238=) rs747008412 0.00001
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1558A>T (p.Ile520Phe) rs398124158
NM_004463.3(FGD1):c.1564C>A (p.Arg522Ser) rs398124159
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys) rs398124159
NM_004463.3(FGD1):c.207C>T (p.Gly69=) rs886043842
NM_004463.3(FGD1):c.2257T>G (p.Cys753Gly) rs398124163
NM_004463.3(FGD1):c.2329C>T (p.Arg777Cys) rs1569540987
NM_004463.3(FGD1):c.457C>G (p.Arg153Gly) rs1162044129
NM_004463.3(FGD1):c.574C>T (p.Pro192Ser) rs398124164
NM_004463.3(FGD1):c.849C>T (p.Ser283=) rs886042184
NM_004463.3(FGD1):c.898G>A (p.Val300Ile) rs398124165

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