List of variants reported as not provided for Ataxia-hypogonadism-choroidal dystrophy syndrome by GeneReviews

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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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