ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 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.1506G>C (p.Lys502Asn) rs1555988382
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.2246G>C (p.Trp749Ser) rs587784351
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.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364

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