ClinVar Miner

List of variants in gene combination DSG1, DSG4 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_177986.5(DSG4):c.1278-13T>C rs16961847 0.00591
NM_177986.5(DSG4):c.1933+12A>G rs117592021 0.00370
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg) rs35378785 0.00362
NM_177986.5(DSG4):c.236C>T (p.Ser79Leu) rs36040686 0.00357
NM_177986.5(DSG4):c.980A>G (p.Asn327Ser) rs149724713 0.00324
NM_177986.5(DSG4):c.715G>A (p.Gly239Ser) rs146853509 0.00312
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val) rs144490546 0.00203
NM_177986.5(DSG4):c.2166G>A (p.Gly722=) rs74755361 0.00188
NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly) rs150706241 0.00185
NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg) rs150676638 0.00172
NM_177986.5(DSG4):c.1128T>C (p.Val376=) rs143590546 0.00134
NM_177986.5(DSG4):c.2517A>G (p.Lys839=) rs144494183 0.00122
NM_177986.5(DSG4):c.2901A>G (p.Arg967=) rs151254406 0.00121
NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser) rs139102330 0.00119
NM_177986.5(DSG4):c.-10A>G rs146720169 0.00102
NM_177986.5(DSG4):c.3020T>C (p.Met1007Thr) rs145343712 0.00085
NM_177986.5(DSG4):c.2387G>T (p.Gly796Val) rs148418252 0.00078
NM_177986.5(DSG4):c.2734G>A (p.Gly912Ser) rs148204447 0.00071
NM_177986.5(DSG4):c.1740A>G (p.Gln580=) rs142106072 0.00064
NM_177986.5(DSG4):c.2731T>C (p.Tyr911His) rs145159063 0.00061
NM_177986.5(DSG4):c.955G>A (p.Asp319Asn) rs140750904 0.00059
NM_177986.5(DSG4):c.*303G>A rs749779419 0.00057
NM_177986.5(DSG4):c.1148C>T (p.Pro383Leu) rs773617073 0.00057
NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn) rs151238705 0.00054
NM_177986.5(DSG4):c.-16A>G rs200979438 0.00045
NM_177986.5(DSG4):c.1137G>T (p.Val379=) rs145078681 0.00041
NM_177986.5(DSG4):c.2705A>G (p.His902Arg) rs138401334 0.00031
NM_177986.5(DSG4):c.2019C>T (p.Gly673=) rs143288405 0.00030
NM_177986.5(DSG4):c.2523G>A (p.Arg841=) rs151048983 0.00026
NM_177986.5(DSG4):c.-133C>T rs184332862 0.00014
NM_177986.5(DSG4):c.417G>C (p.Arg139Ser) rs76399598 0.00014
NM_177986.5(DSG4):c.1210T>C (p.Leu404=) rs376174057 0.00012
NM_177986.5(DSG4):c.930C>T (p.Leu310=) rs146457133 0.00012
NM_177986.5(DSG4):c.1199G>A (p.Gly400Glu) rs201015162 0.00010
NM_177986.5(DSG4):c.919T>G (p.Tyr307Asp) rs746863735 0.00010
NM_177986.5(DSG4):c.*104A>T rs1045572404 0.00008
NM_177986.5(DSG4):c.-52G>A rs112493254 0.00008
NM_177986.5(DSG4):c.3091C>T (p.Arg1031Ter) rs147705128 0.00007
NM_177986.5(DSG4):c.398G>A (p.Arg133Gln) rs143110911 0.00007
NM_177986.5(DSG4):c.1158T>A (p.His386Gln) rs771430126 0.00006
NM_177986.5(DSG4):c.1366T>C (p.Ser456Pro) rs748330012 0.00006
NM_177986.5(DSG4):c.2015A>G (p.Glu672Gly) rs753732719 0.00006
NM_177986.5(DSG4):c.2928del (p.Asp976fs) rs754476167 0.00006
NM_177986.5(DSG4):c.2945C>T (p.Thr982Met) rs140423185 0.00005
NM_177986.5(DSG4):c.1753T>C (p.Tyr585His) rs151203009 0.00003
NM_177986.5(DSG4):c.176G>A (p.Arg59Gln) rs527707261 0.00003
NM_177986.5(DSG4):c.2308G>A (p.Ala770Thr) rs545855902 0.00003
NM_177986.5(DSG4):c.2735G>A (p.Gly912Asp) rs746385171 0.00003
NM_177986.5(DSG4):c.587A>G (p.Tyr196Cys) rs369598361 0.00003
NM_177986.5(DSG4):c.590A>G (p.Lys197Arg) rs372838408 0.00003
NM_177986.5(DSG4):c.628A>T (p.Ile210Phe) rs749155221 0.00003
NM_177986.5(DSG4):c.*55C>T rs924238636 0.00002
NM_177986.5(DSG4):c.1193T>A (p.Ile398Lys) rs1387261643 0.00001
NM_177986.5(DSG4):c.1637-14C>T rs776232998 0.00001
NM_177986.5(DSG4):c.1719C>T (p.Asn573=) rs1362081767 0.00001
NM_177986.5(DSG4):c.1725A>G (p.Ala575=) rs780842673 0.00001
NM_177986.5(DSG4):c.1800C>T (p.Ala600=) rs745538080 0.00001
NM_177986.5(DSG4):c.2266G>T (p.Ala756Ser) rs145949758 0.00001
NM_177986.5(DSG4):c.3106C>T (p.His1036Tyr) rs755004431 0.00001
NM_177986.5(DSG4):c.920A>G (p.Tyr307Cys) rs770611447 0.00001
NM_177986.5(DSG4):c.928C>A (p.Leu310Ile) rs886053705 0.00001
NM_177986.5(DSG4):c.-101T>A rs112913648
NM_177986.5(DSG4):c.-43A>C rs140773382
NM_177986.5(DSG4):c.-43A>G rs140773382
NM_177986.5(DSG4):c.-66G>A rs142563540
NM_177986.5(DSG4):c.-88A>G rs886053703
NM_177986.5(DSG4):c.1384G>A (p.Gly462Arg) rs769839521
NM_177986.5(DSG4):c.1636+12G>A rs375850397
NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys) rs200288878
NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr) rs147049549
NM_177986.5(DSG4):c.2276G>C (p.Arg759Thr) rs886053706
NM_177986.5(DSG4):c.2560C>T (p.Pro854Ser) rs766049438
NM_177986.5(DSG4):c.259A>C (p.Ile87Leu) rs886053704
NM_177986.5(DSG4):c.3027A>G (p.Pro1009=) rs1369959288
NM_177986.5(DSG4):c.428T>G (p.Leu143Arg) rs2072219514
NM_177986.5(DSG4):c.474G>T (p.Ser158=) rs201177179
NM_177986.5(DSG4):c.517+7A>T rs1268612950

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