List of variants in gene PKP1 reported as pathogenic for ectodermal dysplasia syndrome

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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_001005337.3(PKP1):c.910C>T (p.Gln304Ter)	rs121918354	0.00001
NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs)
NM_001005337.3(PKP1):c.1233-2A>G	rs1558193923
NM_001005337.3(PKP1):c.1233-2A>T	rs1558193923
NM_001005337.3(PKP1):c.2021+1G>A	rs1571564381
NM_001005337.3(PKP1):c.889del (p.Arg297fs)	rs1571557821

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