List of variants in gene PNPLA2 reported as pathogenic by Invitae

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu)	rs121918259	0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs)	rs796065308	0.00001
NM_020376.4(PNPLA2):c.1043del (p.Phe348fs)	rs1565089992
NM_020376.4(PNPLA2):c.231_232insGGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCCCGG (p.Lys78delinsGlyTrpArgArgGlyPheAlaValLeuAlaGlyLeuValSerSerSerTer)
NM_020376.4(PNPLA2):c.440del (p.Phe147fs)	rs2133847468
NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro)	rs554737718
NM_020376.4(PNPLA2):c.757+1G>T	rs869320738
NM_020376.4(PNPLA2):c.792del (p.Leu264fs)	rs2133849513
NM_020376.4(PNPLA2):c.798dup (p.Ala267fs)	rs1343828094
NM_020376.4(PNPLA2):c.808del (p.His270fs)	rs796065303
NM_020376.4(PNPLA2):c.856_877del (p.Asp286fs)	rs2133849618
NM_020376.4(PNPLA2):c.903del (p.Ala302fs)	rs1255475913
NM_020376.4(PNPLA2):c.999del (p.Ala333_Met334insTer)	rs2133850152

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