List of variants studied for achromatopsia by GeneReviews

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	rs200311463	0.00012
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)	rs761357250	0.00006
NM_001377295.2(GNAT2):c.461+24G>A	rs397515384
NM_007348.4(ATF6):c.1533+1G>C	rs797045172
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)	rs121918344

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