ClinVar Miner

List of variants in gene PLA2G6 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_003560.4(PLA2G6):c.1428-8C>T rs370288820 0.00058
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln) rs139184008 0.00028
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met) rs144012369 0.00011
NM_003560.4(PLA2G6):c.2277-6G>A rs370528124 0.00011
NM_003560.4(PLA2G6):c.1268C>T (p.Ala423Val) rs199636953 0.00007
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) rs746217497 0.00004
NM_003560.4(PLA2G6):c.1234G>A (p.Glu412Lys) rs575880571 0.00002
NM_003560.4(PLA2G6):c.1286C>T (p.Ala429Val) rs188895903 0.00002
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) rs11570607 0.00002
NM_003560.4(PLA2G6):c.344G>A (p.Arg115His) rs138040351 0.00002
NM_003560.4(PLA2G6):c.803C>T (p.Ala268Val) rs762715738 0.00002
NM_003560.4(PLA2G6):c.1255C>T (p.His419Tyr) rs370873601 0.00001
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn) rs375874092 0.00001
NM_003560.4(PLA2G6):c.1423C>T (p.Arg475Trp) rs755845373 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.2416C>T (p.Pro806Ser) rs745664459 0.00001
NM_003560.4(PLA2G6):c.1037G>A (p.Arg346His)
NM_003560.4(PLA2G6):c.1186C>T (p.Leu396Phe) rs778423680
NM_003560.4(PLA2G6):c.1187-5A>G rs1175689296
NM_003560.4(PLA2G6):c.1367A>C (p.His456Pro) rs1265504715
NM_003560.4(PLA2G6):c.1512G>A (p.Ser504=)
NM_003560.4(PLA2G6):c.1527G>C (p.Lys509Asn) rs1602096719
NM_003560.4(PLA2G6):c.1628G>T (p.Arg543Leu) rs763937995
NM_003560.4(PLA2G6):c.1651G>A (p.Gly551Ser)
NM_003560.4(PLA2G6):c.1672G>C (p.Gly558Arg)
NM_003560.4(PLA2G6):c.1826G>A (p.Arg609Gln)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2356G>C (p.Glu786Gln) rs778705470
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413
NM_003560.4(PLA2G6):c.266C>T (p.Ser89Phe) rs142715413
NM_003560.4(PLA2G6):c.29C>A (p.Thr10Asn) rs1323819447
NM_003560.4(PLA2G6):c.379G>A (p.Val127Met)
NM_003560.4(PLA2G6):c.464C>T (p.Pro155Leu) rs2145819254
NM_003560.4(PLA2G6):c.707T>G (p.Val236Gly) rs2145803603
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023

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