ClinVar Miner

List of variants in gene ATP2A2 reported as pathogenic for Darier disease

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
ATP2A2, 18-BP INS, IVS2, -12
ATP2A2, IVS6DS, G-A, +1
NM_001681.3(ATP2A2):c.1678T>C (p.Cys560Arg) rs121912734
NM_001681.3(ATP2A2):c.2264_2266del (p.Asn755del)
NM_001681.3(ATP2A2):c.322C>T (p.Gln108Ter) rs121912731
NM_001681.3(ATP2A2):c.392G>A (p.Arg131Gln) rs121912738
NM_170665.3(ATP2A2):c.68G>A (p.Gly23Glu) rs28929478

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