ClinVar Miner

List of variants reported as benign for Hailey-Hailey disease

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369

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