List of variants in gene PLA2G6 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.386T>C (p.Leu129Pro)	rs374746113	0.00019
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	rs587784326	0.00004
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)	rs587784363	0.00001
NM_003560.4(PLA2G6):c.1022C>A (p.Ala341Asp)	rs1030529431
NM_003560.4(PLA2G6):c.1186+1G>A	rs761815070
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)	rs1555988204
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser)	rs370691849
NM_003560.4(PLA2G6):c.1647C>A (p.Phe549Leu)
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)	rs776753796

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