ClinVar Miner

List of variants in gene FGD4 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met) rs774466701 0.00006
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln) rs144980336 0.00006
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe) rs1555216969
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.504-20C>G rs1592293275

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