ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) rs199926617 0.00006
NM_001943.5(DSG2):c.1878A>G (p.Leu626=) rs771576658 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.1194C>G (p.Ser398Arg) rs770669833
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) rs772240008
NM_001943.5(DSG2):c.2435G>A (p.Gly812Asp)
NM_001943.5(DSG2):c.2524G>C (p.Gly842Arg)
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr) rs2073123855
NM_001943.5(DSG2):c.3251C>T (p.Pro1084Leu)
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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