ClinVar Miner

List of variants in gene ATP2A2 reported as likely benign for Darier disease

Included ClinVar conditions (2):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.2945C>T (p.Thr982Met) rs149024535 0.00144
NM_170665.4(ATP2A2):c.2318+3A>G rs201126870 0.00027
NM_170665.4(ATP2A2):c.1569G>A (p.Arg523=) rs558277715 0.00022
NM_170665.4(ATP2A2):c.1627A>G (p.Lys543Glu) rs766125552 0.00009
NM_170665.4(ATP2A2):c.1758T>C (p.Tyr586=) rs145018250 0.00009
NM_170665.4(ATP2A2):c.2295G>A (p.Ser765=) rs375096367 0.00007
NM_170665.4(ATP2A2):c.1122T>C (p.Gly374=) rs772617747 0.00003
NM_170665.4(ATP2A2):c.*3837C>T rs769621334 0.00002
NM_170665.4(ATP2A2):c.136+11C>T rs769052817 0.00001
NM_170665.4(ATP2A2):c.2860-10TG[2] rs372303998

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