ClinVar Miner

List of variants in gene PLEC reported as uncertain significance by Baylor Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00079
NM_201384.3(PLEC):c.8468G>A (p.Arg2823His) rs376887979 0.00016
NM_201384.3(PLEC):c.10010C>T (p.Thr3337Met) rs201699314 0.00014
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) rs201455467 0.00013
NM_201384.3(PLEC):c.5003A>C (p.Glu1668Ala) rs782670264 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg) rs202037264 0.00007
NM_201384.3(PLEC):c.6455C>T (p.Ala2152Val) rs200758669 0.00006
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201378.4(PLEC):c.71-11749C>T rs374957051 0.00001
NM_201384.3(PLEC):c.10621C>A (p.Leu3541Met) rs936688720 0.00001
NM_201384.3(PLEC):c.4372C>T (p.Arg1458Cys) rs782169790 0.00001
NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) rs782344020 0.00001
NM_201384.3(PLEC):c.4736A>C (p.Gln1579Pro) rs1554701162 0.00001
NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly) rs781881685 0.00001
NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln) rs369798520
NM_201384.3(PLEC):c.5865GGA[3] (p.Glu1956dup) rs1823972982
NM_201384.3(PLEC):c.7816C>T (p.Arg2606Trp)
NM_201384.3(PLEC):c.9326A>G (p.Tyr3109Cys) rs1554681992

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