ClinVar Miner

List of variants reported as pathogenic for Darier disease by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN rs2137673961
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) rs121912734
NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del) rs1566240208
NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter) rs121912731
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) rs121912738
NM_170665.4(ATP2A2):c.544+1G>A rs1592839705
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) rs28929478

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