List of variants in gene PLA2G6 reported as pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)	rs2087135251	0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	rs587784347	0.00001
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)	rs2145770192
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs)	rs2145722213
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)	rs1177564212
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)	rs776713955
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)	rs1318351016
NM_003560.4(PLA2G6):c.2276+1G>A	rs1397030516
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs)	rs1216972369

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