List of variants in gene PNPLA6 reported as pathogenic for Trichomegaly-retina pigmentary degeneration-dwarfism 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)	rs773955314	0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)	rs142422525	0.00002
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	rs786201037

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