List of variants in gene PNPLA6 reported as not provided for ataxia-hypogonadism-choroidal dystrophy syndrome

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)	rs151264767	0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	rs140929996	0.00004
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)	rs541098659	0.00001
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)	rs587777615
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	rs121434415
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	rs786201037

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