ClinVar Miner

List of variants studied for Hereditary lymphedema type I by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_182925.5(FLT4):c.1472C>T (p.Ala491Val) rs146167161 0.00025
NM_182925.5(FLT4):c.1422-8C>T rs749735045 0.00003
NM_182925.5(FLT4):c.1519T>C (p.Trp507Arg) rs775912367 0.00001
NM_182925.5(FLT4):c.3380G>A (p.Arg1127Gln) rs376188634 0.00001
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu) rs149033942
NM_182925.5(FLT4):c.3092G>A (p.Arg1031Gln)
NM_182925.5(FLT4):c.3434G>A (p.Arg1145His)
NM_182925.5(FLT4):c.676+6_676+30del rs767757882

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