ClinVar Miner

List of variants in gene combination DSG1, DSG4 reported as uncertain significance for Hypotrichosis 6

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Total variants: 77
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HGVS dbSNP
NM_177986.5(DSG4):c.*104A>T
NM_177986.5(DSG4):c.*303G>A rs749779419
NM_177986.5(DSG4):c.*55C>T
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=)
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.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.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.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.2104G>A (p.Ala702Thr)
NM_177986.5(DSG4):c.2166G>A (p.Gly722=) rs74755361
NM_177986.5(DSG4):c.2266G>T (p.Ala756Ser)
NM_177986.5(DSG4):c.2276G>C (p.Arg759Thr) rs886053706
NM_177986.5(DSG4):c.2308G>A (p.Ala770Thr)
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)
NM_177986.5(DSG4):c.236C>T (p.Ser79Leu)
NM_177986.5(DSG4):c.2387G>T (p.Gly796Val)
NM_177986.5(DSG4):c.2517A>G (p.Lys839=)
NM_177986.5(DSG4):c.2523G>A (p.Arg841=)
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.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.2777A>G (p.Asp926Gly) rs150706241
NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser)
NM_177986.5(DSG4):c.2901A>G (p.Arg967=)
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.3091C>T (p.Arg1031Ter) rs147705128
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.474G>T (p.Ser158=)
NM_177986.5(DSG4):c.517+7A>T
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.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)

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