List of variants in gene PNPLA8 reported as uncertain significance for Mitochondrial myopathy-lactic acidosis-deafness syndrome

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)	rs139626312	0.00311
NM_001256007.3(PNPLA8):c.1874A>G (p.His625Arg)	rs1365563377	0.00001
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys)	rs760704135	0.00001
NM_001256007.3(PNPLA8):c.1441G>A (p.Gly481Ser)
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.1904C>T (p.Pro635Leu)	rs2154514825
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys)	rs1859698620
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)

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