List of variants in gene PNPLA6 reported as uncertain significance for Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; 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.1492G>A (p.Ala498Thr)	rs375397452	0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	rs140929996	0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	rs777466386	0.00004
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)	rs377449787	0.00003

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