ClinVar Miner

List of variants reported as uncertain significance for alopecia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 243
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_007373.4(SHOC2):c.*1487G>T rs7074770 0.01049
NM_177986.5(DSG4):c.1278-13T>C rs16961847 0.00591
NM_007373.4(SHOC2):c.-244G>T rs192673935 0.00499
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_005144.5(HR):c.970C>T (p.Arg324Trp) rs143170974 0.00233
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_007373.4(SHOC2):c.*1486dup rs549502834 0.00116
NM_177986.5(DSG4):c.-10A>G rs146720169 0.00102
NM_005144.5(HR):c.2354C>T (p.Pro785Leu) rs140534514 0.00100
NM_005144.5(HR):c.2355G>A (p.Pro785=) rs151306827 0.00099
NM_007373.4(SHOC2):c.*656C>G rs557334390 0.00090
NM_007373.4(SHOC2):c.*404A>G rs539394184 0.00086
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_005144.5(HR):c.*180G>A rs564901808 0.00066
NM_005144.5(HR):c.-599C>T rs759359391 0.00066
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_005144.5(HR):c.1527G>A (p.Gly509=) rs73549518 0.00055
NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn) rs151238705 0.00054
NM_005144.5(HR):c.184C>A (p.Pro62Thr) rs137929972 0.00053
NM_005144.5(HR):c.3309C>T (p.Gly1103=) rs558767137 0.00046
NM_177986.5(DSG4):c.-16A>G rs200979438 0.00045
NM_005144.5(HR):c.1772A>G (p.Glu591Gly) rs137912857 0.00041
NM_177986.5(DSG4):c.1137G>T (p.Val379=) rs145078681 0.00041
NM_001394132.1(HRURF):c.-90C>T rs541887689 0.00040
NM_005144.5(HR):c.1346T>G (p.Val449Gly) rs144744042 0.00038
NM_007373.4(SHOC2):c.*685C>T rs749942762 0.00038
NM_005144.5(HR):c.3228G>A (p.Gly1076=) rs570553679 0.00031
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_005144.5(HR):c.1458A>G (p.Pro486=) rs144643140 0.00029
NM_005144.5(HR):c.1552C>T (p.Arg518Trp) rs138624433 0.00028
NM_177986.5(DSG4):c.2523G>A (p.Arg841=) rs151048983 0.00026
NM_005144.5(HR):c.*1150C>T rs185853861 0.00025
NM_001394132.1(HRURF):c.-118A>G rs886062811 0.00023
NM_005144.5(HR):c.974G>A (p.Gly325Asp) rs200125747 0.00020
NM_005144.5(HR):c.1469T>G (p.Leu490Arg) rs138006057 0.00019
NM_007373.4(SHOC2):c.*1245T>C rs754913685 0.00019
NM_001394132.1(HRURF):c.*81C>T rs766260543 0.00017
NM_005144.5(HR):c.2298G>A (p.Ala766=) rs145225497 0.00017
NM_005144.5(HR):c.*185C>G rs886062804 0.00016
NM_005144.5(HR):c.1276C>T (p.Pro426Ser) rs151036296 0.00016
NM_005144.5(HR):c.2166C>T (p.Cys722=) rs200854129 0.00016
NM_001264.5(CDSN):c.1340C>T (p.Pro447Leu) rs201876916 0.00015
NM_005144.5(HR):c.*303G>A rs181310087 0.00015
NM_005144.5(HR):c.1575G>A (p.Glu525=) rs557921105 0.00014
NM_005144.5(HR):c.2993G>A (p.Arg998Gln) rs138875411 0.00014
NM_177986.5(DSG4):c.-133C>T rs184332862 0.00014
NM_177986.5(DSG4):c.417G>C (p.Arg139Ser) rs76399598 0.00014
NM_005144.5(HR):c.*1253T>C rs556731235 0.00013
NM_007373.4(SHOC2):c.-114C>G rs1057217316 0.00013
NM_005144.5(HR):c.*30G>T rs369058841 0.00012
NM_007373.4(SHOC2):c.*979C>T rs994617323 0.00012
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_005144.5(HR):c.*294C>T rs550603067 0.00011
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_005144.5(HR):c.*734G>A rs536800865 0.00009
NM_005144.5(HR):c.84C>T (p.Pro28=) rs543229110 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_177986.5(DSG4):c.*104A>T rs1045572404 0.00008
NM_177986.5(DSG4):c.-52G>A rs112493254 0.00008
NM_005144.5(HR):c.*76G>T rs769096804 0.00007
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_005144.5(HR):c.*617G>C rs762261958 0.00006
NM_005144.5(HR):c.*746C>G rs952402423 0.00006
NM_005144.5(HR):c.-106G>A rs954781373 0.00006
NM_005144.5(HR):c.1440G>A (p.Pro480=) rs761705307 0.00006
NM_005144.5(HR):c.1662C>T (p.Leu554=) rs369191252 0.00006
NM_005144.5(HR):c.2367+14C>T rs112532092 0.00006
NM_005144.5(HR):c.3406G>A (p.Val1136Ile) rs767952839 0.00006
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_005144.5(HR):c.*1020C>A rs775595076 0.00005
NM_005144.5(HR):c.*1270T>C rs1299424148 0.00005
NM_005144.5(HR):c.2217C>T (p.Ser739=) rs574361484 0.00005
NM_177986.5(DSG4):c.2945C>T (p.Thr982Met) rs140423185 0.00005
NM_005144.5(HR):c.*1145C>T rs931452724 0.00004
NM_005144.5(HR):c.*295G>A rs1044334227 0.00004
NM_005144.5(HR):c.-572G>C rs1017901290 0.00004
NM_005144.5(HR):c.1618G>A (p.Glu540Lys) rs772984704 0.00004
NM_005144.5(HR):c.85G>A (p.Gly29Ser) rs774239265 0.00004
NM_007373.4(SHOC2):c.*1324G>A rs559572636 0.00004
NM_007373.4(SHOC2):c.*614T>G rs886046732 0.00004
NM_001394132.1(HRURF):c.-122G>C rs886062812 0.00003
NM_005144.5(HR):c.*579C>T rs558662312 0.00003
NM_005144.5(HR):c.*751G>C rs777189827 0.00003
NM_005144.5(HR):c.120G>A (p.Pro40=) rs757776752 0.00003
NM_005144.5(HR):c.1632C>T (p.Ser544=) rs148562279 0.00003
NM_005144.5(HR):c.2203+6C>T rs761298317 0.00003
NM_005144.5(HR):c.415C>T (p.Arg139Trp) rs148782064 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
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_005144.5(HR):c.2006-4C>T rs886062808 0.00002
NM_005144.5(HR):c.2212G>A (p.Asp738Asn) rs886062807 0.00002
NM_005144.5(HR):c.3221C>T (p.Pro1074Leu) rs376198743 0.00002
NM_005144.5(HR):c.877G>A (p.Val293Ile) rs377478562 0.00002
NM_177986.5(DSG4):c.*55C>T rs924238636 0.00002
NM_001098672.2(HEPHL1):c.3280C>T (p.Arg1094Ter) rs546075822 0.00001
NM_001394132.1(HRURF):c.-300T>C rs886062813 0.00001
NM_005144.5(HR):c.-380C>T rs574717314 0.00001
NM_005144.5(HR):c.1360A>G (p.Ile454Val) rs886062809 0.00001
NM_005144.5(HR):c.1557-10C>T rs773678343 0.00001
NM_005144.5(HR):c.1571G>A (p.Gly524Glu) rs780702208 0.00001
NM_005144.5(HR):c.1745G>A (p.Arg582Gln) rs770038127 0.00001
NM_005144.5(HR):c.234C>T (p.Gly78=) rs746615772 0.00001
NM_005144.5(HR):c.2412G>C (p.Val804=) rs758753031 0.00001
NM_005144.5(HR):c.2776+4A>G rs1161532958 0.00001
NM_005144.5(HR):c.2777-10C>T rs767116700 0.00001
NM_005144.5(HR):c.293G>A (p.Arg98His) rs765212418 0.00001
NM_005144.5(HR):c.2953G>A (p.Glu985Lys) rs374297416 0.00001
NM_005144.5(HR):c.3049C>T (p.Leu1017=) rs554642882 0.00001
NM_005144.5(HR):c.3544G>A (p.Val1182Met) rs753736200 0.00001
NM_005144.5(HR):c.550C>A (p.His184Asn) rs1386369352 0.00001
NM_007373.4(SHOC2):c.*1269A>G rs772654155 0.00001
NM_007373.4(SHOC2):c.*825G>A rs921664394 0.00001
NM_007373.4(SHOC2):c.*990T>G rs1274288913 0.00001
NM_007373.4(SHOC2):c.-235+15A>G rs1309762163 0.00001
NM_007373.4(SHOC2):c.-254C>T rs886046728 0.00001
NM_007373.4(SHOC2):c.-264A>T rs1367943420 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr) rs751292868 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
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
GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)
NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr) rs2138203806
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_001162498.3(LPAR6):c.8G>C (p.Ser3Thr)
NM_001394132.1(HRURF):c.-258CCGCCGCGCTCT[3] rs568964531
NM_001394132.1(HRURF):c.-5G>A rs886062810
NM_001453.3(FOXC1):c.1450C>T (p.His484Tyr) rs2113114864
NM_002709.3(PPP1CB):c.434T>A (p.Ile145Asn) rs2148051984
NM_005144.5(HR):c.*1054C>T rs1826540489
NM_005144.5(HR):c.*1125C>T rs536860310
NM_005144.5(HR):c.*1262G>C rs537998785
NM_005144.5(HR):c.*420C>T rs763478016
NM_005144.5(HR):c.*597C>T rs886062803
NM_005144.5(HR):c.*820G>A rs142767236
NM_005144.5(HR):c.*885C>T rs747270204
NM_005144.5(HR):c.*904C>T rs140387885
NM_005144.5(HR):c.-40-14T>C rs1826988339
NM_005144.5(HR):c.-469C>T rs1037025566
NM_005144.5(HR):c.1077C>T (p.Ser359=) rs766342643
NM_005144.5(HR):c.136C>G (p.Pro46Ala) rs760827763
NM_005144.5(HR):c.1484C>G (p.Ala495Gly) rs766524987
NM_005144.5(HR):c.1492C>G (p.Gln498Glu) rs1462624667
NM_005144.5(HR):c.1584G>A (p.Gln528=) rs1826862480
NM_005144.5(HR):c.1766T>C (p.Val589Ala) rs1826819225
NM_005144.5(HR):c.1853G>A (p.Ser618Asn) rs559154573
NM_005144.5(HR):c.1934C>A (p.Ala645Glu) rs770986202
NM_005144.5(HR):c.2104G>A (p.Gly702Arg) rs138941448
NM_005144.5(HR):c.212A>T (p.Asp71Val) rs2131769458
NM_005144.5(HR):c.2347G>T (p.Val783Phe) rs766897426
NM_005144.5(HR):c.2522C>T (p.Pro841Leu) rs1350342566
NM_005144.5(HR):c.2566C>G (p.Arg856Gly) rs377059643
NM_005144.5(HR):c.2566C>T (p.Arg856Trp) rs377059643
NM_005144.5(HR):c.2828G>A (p.Gly943Glu) rs200414215
NM_005144.5(HR):c.3098-13C>G rs886062806
NM_005144.5(HR):c.3296G>T (p.Arg1099Leu) rs771604649
NM_005144.5(HR):c.3340G>A (p.Gly1114Arg) rs886062805
NM_005144.5(HR):c.3537G>A (p.Lys1179=) rs779312247
NM_005144.5(HR):c.639T>A (p.Ile213=) rs1826939895
NM_007373.3(SHOC2):c.-346T>G rs1203298501
NM_007373.4(SHOC2):c.*1218C>T rs886046735
NM_007373.4(SHOC2):c.*1381G>C rs997392575
NM_007373.4(SHOC2):c.*1508G>T rs202206864
NM_007373.4(SHOC2):c.*1575A>G rs886046736
NM_007373.4(SHOC2):c.*518T>C rs886046731
NM_007373.4(SHOC2):c.*625del rs886046733
NM_007373.4(SHOC2):c.*958C>A rs372493479
NM_007373.4(SHOC2):c.-259G>A rs138612584
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)
NM_007373.4(SHOC2):c.1284+15G>A rs770745229
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)
NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val) rs2134182984
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) rs1847643137
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) rs1847632082
NM_007373.4(SHOC2):c.598C>T (p.Arg200Cys)
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) rs1848065186
NM_139248.3(LIPH):c.899A>C (p.Asp300Ala)
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.1005+1G>A
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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