ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val) rs762885186 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001943.3:c.45+3_621del
NM_001943.5(DSG2):c.1058T>C (p.Ile353Thr)
NM_001943.5(DSG2):c.1381C>G (p.Gln461Glu)
NM_001943.5(DSG2):c.1513A>G (p.Thr505Ala)
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile) rs1567931587
NM_001943.5(DSG2):c.172C>G (p.Leu58Val) rs780300040
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.205C>A (p.Pro69Thr) rs1568104882
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp) rs1567934256
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)
NM_001943.5(DSG2):c.828_828+2del rs786204292
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167

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