ClinVar Miner

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

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_001943.5(DSG2):c.-41_-21del rs786204286
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile) rs1567931587
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1867C>T (p.Leu623=) rs1456806722
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397
NM_001943.5(DSG2):c.205C>A (p.Pro69Thr) rs1568104882
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.2335-9T>C rs757355636
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp) rs1567934256
NM_001943.5(DSG2):c.2563C>A (p.Gln855Lys)
NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn) rs200691513
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.523+24del
NM_001943.5(DSG2):c.524-9T>A rs11876289
NM_001943.5(DSG2):c.828_828+2del rs786204292
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167

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