ClinVar Miner

List of variants in gene combination ATP2A2, LOC126861637 reported as uncertain significance for Darier disease

Included ClinVar conditions (2):
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Total variants: 5
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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.1878C>T (p.Asp626=) rs375770050 0.00001
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala) rs1879266169
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) rs1879294675

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