ClinVar Miner

List of variants studied for autoimmune bullous skin disease by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001378687.1(ATP2C1):c.2126+1G>A rs748204512 0.00001
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe) rs137853014
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) rs137853015
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs) rs1560033613
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs) rs1559971447
NM_001378687.1(ATP2C1):c.900-1G>A rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr) rs137853012

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