ClinVar Miner

List of variants studied for Darier disease by New York Genome Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg) rs373030579 0.00011
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) rs147575100 0.00004
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) rs1879294675

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