ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.1010del (p.Pro337fs)
NM_170665.4(ATP2A2):c.220-1G>A
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) rs121912732
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) rs1592864859

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