List of variants reported as pathogenic for ataxia-hypogonadism-choroidal dystrophy syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys)	rs587777854	0.00003
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)	rs370033046	0.00002
NM_001166114.2(PNPLA6):c.316-2A>T	rs148045000	0.00001
NM_001166114.2(PNPLA6):c.1243dup (p.Asp415fs)	rs587777853
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)	rs587777615
NM_001166114.2(PNPLA6):c.2185-1G>C	rs606231249
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)	rs587777181
NM_001166114.2(PNPLA6):c.3167T>C (p.Phe1056Ser)	rs587777183
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)	rs587777182
NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C]

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