ClinVar Miner

List of variants in gene DSG1, DSG4 studied for Hypotrichosis 6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_177986.5(DSG4):c.*104A>T
NM_177986.5(DSG4):c.*126G>A
NM_177986.5(DSG4):c.*303G>A rs749779419
NM_177986.5(DSG4):c.*31C>T rs7234333
NM_177986.5(DSG4):c.*55C>T
NM_177986.5(DSG4):c.*71A>G
NM_177986.5(DSG4):c.-101T>A rs112913648
NM_177986.5(DSG4):c.-10A>G rs146720169
NM_177986.5(DSG4):c.-133C>T
NM_177986.5(DSG4):c.-16A>G rs200979438
NM_177986.5(DSG4):c.-43A>C
NM_177986.5(DSG4):c.-43A>G rs140773382
NM_177986.5(DSG4):c.-52G>A rs112493254
NM_177986.5(DSG4):c.-66G>A rs142563540
NM_177986.5(DSG4):c.-88A>G rs886053703
NM_177986.5(DSG4):c.1128T>C (p.Val376=) rs143590546
NM_177986.5(DSG4):c.1137G>T (p.Val379=) rs145078681
NM_177986.5(DSG4):c.1148C>T (p.Pro383Leu)
NM_177986.5(DSG4):c.1158T>A (p.His386Gln) rs771430126
NM_177986.5(DSG4):c.1193T>A (p.Ile398Lys)
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg) rs35378785
NM_177986.5(DSG4):c.1199G>A (p.Gly400Glu)
NM_177986.5(DSG4):c.1210T>C (p.Leu404=)
NM_177986.5(DSG4):c.1278-13T>C
NM_177986.5(DSG4):c.1316T>C (p.Ile439Thr) rs113255372
NM_177986.5(DSG4):c.1366T>C (p.Ser456Pro)
NM_177986.5(DSG4):c.1384G>A (p.Gly462Arg) rs769839521
NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg) rs150676638
NM_177986.5(DSG4):c.1487A>G (p.Asn496Ser) rs117510013
NM_177986.5(DSG4):c.1539C>T (p.Ile513=) rs9945567
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697
NM_177986.5(DSG4):c.1604T>C (p.Ile535Thr) rs7229252
NM_177986.5(DSG4):c.1636+12G>A rs375850397
NM_177986.5(DSG4):c.1637-14C>T
NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys)
NM_177986.5(DSG4):c.1719C>T (p.Asn573=)
NM_177986.5(DSG4):c.1725A>G (p.Ala575=) rs780842673
NM_177986.5(DSG4):c.1740A>G (p.Gln580=) rs142106072
NM_177986.5(DSG4):c.1753T>C (p.Tyr585His)
NM_177986.5(DSG4):c.176G>A (p.Arg59Gln) rs527707261
NM_177986.5(DSG4):c.1800C>T (p.Ala600=)
NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu) rs4799570
NM_177986.5(DSG4):c.1933+12A>G
NM_177986.5(DSG4):c.2015A>G (p.Glu672Gly) rs753732719
NM_177986.5(DSG4):c.2019C>T (p.Gly673=) rs143288405
NM_177986.5(DSG4):c.2038dup (p.Ser680fs) rs786200875
NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr)
NM_177986.5(DSG4):c.216+1G>T rs1568062215
NM_177986.5(DSG4):c.2166G>A (p.Gly722=) rs74755361
NM_177986.5(DSG4):c.21A>G (p.Arg7=) rs75549650
NM_177986.5(DSG4):c.2266G>T (p.Ala756Ser)
NM_177986.5(DSG4):c.2276G>C (p.Arg759Thr) rs886053706
NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala) rs61734847
NM_177986.5(DSG4):c.2308G>A (p.Ala770Thr)
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val) rs144490546
NM_177986.5(DSG4):c.236C>T (p.Ser79Leu) rs36040686
NM_177986.5(DSG4):c.2387G>T (p.Gly796Val)
NM_177986.5(DSG4):c.2391A>C (p.Arg797=) rs112653254
NM_177986.5(DSG4):c.2442C>T (p.Pro814=) rs73410297
NM_177986.5(DSG4):c.2517A>G (p.Lys839=) rs144494183
NM_177986.5(DSG4):c.2523G>A (p.Arg841=)
NM_177986.5(DSG4):c.2560C>T (p.Pro854Ser) rs766049438
NM_177986.5(DSG4):c.2589A>C (p.Pro863=) rs148491546
NM_177986.5(DSG4):c.258G>A (p.Arg86=) rs16959856
NM_177986.5(DSG4):c.259A>C (p.Ile87Leu) rs886053704
NM_177986.5(DSG4):c.2705A>G (p.His902Arg)
NM_177986.5(DSG4):c.2731T>C (p.Tyr911His) rs145159063
NM_177986.5(DSG4):c.2734G>A (p.Gly912Ser) rs148204447
NM_177986.5(DSG4):c.2735G>A (p.Gly912Asp) rs746385171
NM_177986.5(DSG4):c.2748A>G (p.Pro916=) rs12960081
NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly) rs150706241
NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser) rs139102330
NM_177986.5(DSG4):c.2796T>G (p.Asn932Lys) rs373510855
NM_177986.5(DSG4):c.2901A>G (p.Arg967=) rs151254406
NM_177986.5(DSG4):c.2928del (p.Asp976fs) rs754476167
NM_177986.5(DSG4):c.2945C>T (p.Thr982Met) rs140423185
NM_177986.5(DSG4):c.3020T>C (p.Met1007Thr) rs145343712
NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn) rs151238705
NM_177986.5(DSG4):c.3027A>G (p.Pro1009=)
NM_177986.5(DSG4):c.3066C>A (p.Pro1022=) rs7234288
NM_177986.5(DSG4):c.3069G>A (p.Met1023Ile) rs60800275
NM_177986.5(DSG4):c.3091C>T (p.Arg1031Ter) rs147705128
NM_177986.5(DSG4):c.30C>T (p.Cys10=) rs36101975
NM_177986.5(DSG4):c.3106C>T (p.His1036Tyr)
NM_177986.5(DSG4):c.398G>A (p.Arg133Gln)
NM_177986.5(DSG4):c.417G>C (p.Arg139Ser) rs76399598
NM_177986.5(DSG4):c.428T>G (p.Leu143Arg)
NM_177986.5(DSG4):c.460G>A (p.Ala154Thr) rs13381457
NM_177986.5(DSG4):c.474G>T (p.Ser158=)
NM_177986.5(DSG4):c.495C>T (p.Ser165=) rs9956865
NM_177986.5(DSG4):c.517+7A>T
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro) rs267606775
NM_177986.5(DSG4):c.587A>G (p.Tyr196Cys) rs369598361
NM_177986.5(DSG4):c.590A>G (p.Lys197Arg) rs372838408
NM_177986.5(DSG4):c.628A>T (p.Ile210Phe) rs749155221
NM_177986.5(DSG4):c.715G>A (p.Gly239Ser) rs146853509
NM_177986.5(DSG4):c.763del (p.Cys255fs) rs1462595806
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg) rs267606776
NM_177986.5(DSG4):c.855G>A (p.Ser285=) rs35210710
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) rs267606777
NM_177986.5(DSG4):c.87del (p.Lys30fs) rs1325804776
NM_177986.5(DSG4):c.919T>G (p.Tyr307Asp) rs746863735
NM_177986.5(DSG4):c.920A>G (p.Tyr307Cys) rs770611447
NM_177986.5(DSG4):c.928C>A (p.Leu310Ile) rs886053705
NM_177986.5(DSG4):c.930C>T (p.Leu310=)
NM_177986.5(DSG4):c.955G>A (p.Asp319Asn) rs140750904
NM_177986.5(DSG4):c.980A>G (p.Asn327Ser) rs149724713

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.