List of variants in gene ATP2C1 reported as likely pathogenic for Familial benign pemphigus

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)	rs2531133399
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter)	rs137853013
NM_001378687.1(ATP2C1):c.1570+3A>C	rs997949050
NM_001378687.1(ATP2C1):c.1840-4del	rs2531541261
NM_001378687.1(ATP2C1):c.1840_1844del (p.Val614fs)	rs2531541423
NM_001378687.1(ATP2C1):c.661A>G (p.Thr221Ala)

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