ClinVar Miner

List of variants in gene PLA2G6 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.*19C>T rs377191625 0.00010
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
NM_003560.4(PLA2G6):c.1348+9C>T rs587784328 0.00002
NM_003560.4(PLA2G6):c.1591+8C>T rs200032947 0.00002
NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr) rs587784334 0.00001
NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val) rs1163553928 0.00001
NM_003560.4(PLA2G6):c.2066T>G (p.Ile689Ser) rs587784342 0.00001
NM_003560.4(PLA2G6):c.2071G>A (p.Val691Ile) rs587784345 0.00001
NM_003560.4(PLA2G6):c.2364C>T (p.Tyr788=) rs748821599 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_003560.4(PLA2G6):c.1591+11C>A rs587784335
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg) rs587784358
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=) rs546742857

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