List of variants in gene ATP2C1 reported as pathogenic for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.900-1G>C	rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr)	rs137853012

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