ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 5
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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.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs) rs2073310848
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093

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