ClinVar Miner

List of variants in gene DSG2 reported as 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
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
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.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704
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.523+24del
NM_001943.5(DSG2):c.524-9T>A rs11876289

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