List of variants in gene DSG2 reported as pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	rs121913008	0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)	rs753052874	0.00001
NM_001943.5(DSG2):c.523+2T>C	rs397516709	0.00001
NM_001943.4(DSG2):c.1015del	rs794728094
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)	rs752522753
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)	rs730880347
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	rs1039633976
NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
NM_001943.5(DSG2):c.449_450del (p.Leu150fs)
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	rs794728091
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)	rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)

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