ClinVar Miner

List of variants in gene ATP2C1 reported as likely benign for Hailey-Hailey disease

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=) rs753216597 0.00005
NM_001378687.1(ATP2C1):c.2232C>A (p.Pro744=) rs761270371 0.00001
NM_001378687.1(ATP2C1):c.*350del rs200037424
NM_001378687.1(ATP2C1):c.*493TGTAA[1] rs141448272

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