ClinVar Miner

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

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) rs2413502 0.05955
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) rs11570679 0.05937
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
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.2417C>G (p.Pro806Arg) rs140758033 0.00021
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.1742+12C>T rs11570739 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.39C>T (p.Gly13=) rs201497785 0.00005
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
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.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1119A>C (p.Gly373=) rs1175607172 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr) rs587784334 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile) rs587784338 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 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.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 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.986G>A (p.Arg329His) rs587784363 0.00001
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1349-2A>G rs797045888
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs) rs587784333
NM_003560.4(PLA2G6):c.1591+11C>A rs587784335
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.1778C>A (p.Pro593Gln) rs1451486649
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr) rs587784340
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) rs1555978219
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs) rs587784352
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His) rs587784354
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg) rs587784355
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys) rs587784356
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter) rs587784357
NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg) rs587784358
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=) rs546742857
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg) rs587784362
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364

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