ClinVar Miner

List of variants in gene ATP2A2, LOC126861637 studied for Keratosis follicularis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323 0.00019
NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg) rs373030579 0.00011
NM_170665.4(ATP2A2):c.1983C>T (p.Asn661=) rs755494363 0.00010
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) rs147575100 0.00004
NM_170665.4(ATP2A2):c.1912A>G (p.Ile638Val) rs199966458 0.00002
NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) rs375770050 0.00001
NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile) rs773326317 0.00001
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala) rs1879266169
NM_170665.4(ATP2A2):c.1858G>T (p.Val620Phe)
NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu) rs2137856827

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