ClinVar Miner

List of variants in gene combination DSG1, DSG4 reported as likely benign by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_177986.5(DSG4):c.3069G>A (p.Met1023Ile) rs60800275 0.02223
NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala) rs61734847 0.02068
NM_177986.5(DSG4):c.*126G>A rs59818622 0.02017
NM_177986.5(DSG4):c.*71A>G rs57543172 0.02014
NM_177986.5(DSG4):c.855G>A (p.Ser285=) rs35210710 0.01371
NM_177986.5(DSG4):c.1539C>T (p.Ile513=) rs9945567 0.01287
NM_177986.5(DSG4):c.1487A>G (p.Asn496Ser) rs117510013 0.01169
NM_177986.5(DSG4):c.21A>G (p.Arg7=) rs75549650 0.01050
NM_177986.5(DSG4):c.2442C>T (p.Pro814=) rs73410297 0.00911
NM_177986.5(DSG4):c.1316T>C (p.Ile439Thr) rs113255372 0.00691
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697 0.00424
NM_177986.5(DSG4):c.460G>A (p.Ala154Thr) rs13381457 0.00143
NM_177986.5(DSG4):c.2589A>C (p.Pro863=) rs148491546 0.00048

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