ClinVar Miner

List of variants in gene ATP2A2, LOC130008738 studied for Darier disease

Included ClinVar conditions (2):
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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.-403C>G rs3026433 0.16253
NM_170665.4(ATP2A2):c.-500T>C rs550888717 0.00830
NM_170665.4(ATP2A2):c.-335C>A rs886048945 0.00178
NM_170665.4(ATP2A2):c.-324G>A rs543056549 0.00159
NM_170665.4(ATP2A2):c.-311G>T rs886048946 0.00091
NM_170665.4(ATP2A2):c.-458G>A rs978156826 0.00057
NM_170665.4(ATP2A2):c.-512C>G rs935214564 0.00011
NM_170665.4(ATP2A2):c.-543A>G rs964246816 0.00001
NM_170665.4(ATP2A2):c.-391C>T rs960385666
NM_170665.4(ATP2A2):c.-469G>C rs1592781428
NM_170665.4(ATP2A2):c.-476C>T rs886048944
NM_170665.4(ATP2A2):c.-482C>T rs886048943

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