List of variants reported as pathogenic for Achromatopsia 7 by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)	rs761357250	0.00006
NM_007348.4(ATF6):c.1110dup (p.Val371fs)	rs797045174
NM_007348.4(ATF6):c.1187+5G>C	rs761129859
NM_007348.4(ATF6):c.1533+1G>C	rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)	rs796065053
NM_007348.4(ATF6):c.353del (p.Pro118fs)	rs797045171
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)	rs797045173
NM_007348.4(ATF6):c.82+5G>T	rs797045170

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