List of variants in gene DSG2 reported as pathogenic by GeneDx

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: 14

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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_001943.5(DSG2):c.146G>A (p.Arg49His)	rs121913006
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer)	rs397516703
NM_001943.5(DSG2):c.1880-2A>G	rs397514038
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	rs1064793983
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs)	rs794728098
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs)	rs781532110
NM_001943.5(DSG2):c.523+1G>A	rs553299589
NM_001943.5(DSG2):c.601_605del (p.Val201fs)	rs794728092
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)	rs794728083
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)	rs794728093

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