ClinVar Miner

List of variants in gene DSG2 reported as pathogenic for Dilated cardiomyopathy 1BB

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)	rs753052874	0.00001
NM_001943.5(DSG2):c.2955del (p.Val986fs)	rs1064794709

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