ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) rs367548984 0.00011
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801 0.00004
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532 0.00002
NM_001943.5(DSG2):c.2563C>A (p.Gln855Lys) rs201707876 0.00001
NM_001943.5(DSG2):c.1867C>T (p.Leu623=) rs1456806722
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145

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