List of variants studied for Darier disease by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=)	rs56243033	0.05127
NM_170665.4(ATP2A2):c.1420-8C>G	rs112499287	0.02475
NM_170665.4(ATP2A2):c.220-18G>A	rs35235621	0.01583
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)	rs3026434	0.01060
NM_170665.4(ATP2A2):c.-10C>G	rs201929640	0.00698
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)	rs55984131	0.00696
NM_170665.4(ATP2A2):c.1096-16C>T	rs56253731	0.00688
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)	rs149324360	0.00647
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=)	rs148550709	0.00196
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)	rs115016152	0.00148
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=)	rs12312588	0.00064
NM_170665.4(ATP2A2):c.2319-12G>A	rs369489819	0.00056
NM_170665.4(ATP2A2):c.545-7C>T	rs369585470	0.00038
NM_170665.4(ATP2A2):c.1287+3A>G	rs376753206	0.00017
NM_170665.4(ATP2A2):c.2742-6C>T	rs201579013	0.00001
NM_170665.4(ATP2A2):c.2860-10TG[2]	rs372303998
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)	rs147558863

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