List of variants reported as likely pathogenic for ataxia-hypogonadism-choroidal dystrophy syndrome by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	rs374434303	0.00006
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)	rs773955314	0.00002
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)	rs568356836	0.00001
NM_001166114.2(PNPLA6):c.2237A>C (p.Gln746Pro)	rs2146091582
NM_001166114.2(PNPLA6):c.2993A>G (p.Asp998Gly)	rs2023847365
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu)	rs748506175
NM_001166114.2(PNPLA6):c.3358C>T (p.His1120Tyr)	rs2023921392

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