ClinVar Miner

List of variants studied for Alopecia universalis congenita by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_001394132.1(HRURF):c.-294T>G rs6557841 0.65210
NM_005144.5(HR):c.1305T>C (p.Phe435=) rs12675745 0.63572
NM_005144.5(HR):c.*240C>A rs6994872 0.37740
NM_005144.5(HR):c.1010G>A (p.Gly337Asp) rs12675375 0.28084
NM_005144.5(HR):c.1577T>C (p.Leu526Pro) rs56140348 0.19328
NM_005144.5(HR):c.2370T>C (p.Asp790=) rs57903149 0.11618
NM_005144.5(HR):c.2367T>C (p.Ser789=) rs58080661 0.11568
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_005144.5(HR):c.1583A>G (p.Gln528Arg) rs74596676 0.07210
NM_005144.5(HR):c.1190G>A (p.Cys397Tyr) rs73549523 0.06592
NM_005144.5(HR):c.2733C>A (p.Ser911Arg) rs11990451 0.05556
NM_005144.5(HR):c.956C>T (p.Pro319Leu) rs77758962 0.05449
NM_005144.5(HR):c.188C>G (p.Pro63Arg) rs73549525 0.03073
NM_005144.5(HR):c.27G>A (p.Lys9=) rs77620102 0.03021
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_005144.5(HR):c.*820G>C rs142767236 0.01950
NM_005144.5(HR):c.2467G>A (p.Gly823Ser) rs76547188 0.01641
NM_001394132.1(HRURF):c.-12T>C rs147674174 0.01614
NM_005144.5(HR):c.1507G>A (p.Ala503Thr) rs115643651 0.01594
NM_005144.5(HR):c.2570G>A (p.Arg857His) rs114871775 0.01509
NM_005144.5(HR):c.1055C>T (p.Ala352Val) rs115396678 0.01418
NM_005144.5(HR):c.*81C>T rs114329519 0.01316
NM_005144.5(HR):c.2211C>T (p.Pro737=) rs77689228 0.01241
NM_005144.5(HR):c.*218T>C rs74869265 0.01220
NM_005144.5(HR):c.*82G>T rs112057122 0.01214
NM_005144.5(HR):c.1907A>G (p.Glu636Gly) rs75362423 0.01168
NM_005144.5(HR):c.1461C>T (p.Cys487=) rs78703240 0.01153
NM_005144.5(HR):c.*599T>G rs76109349 0.01096
NM_005144.5(HR):c.1359G>A (p.Ser453=) rs78489044 0.00909
NM_005144.5(HR):c.3216G>A (p.Val1072=) rs146855847 0.00634
NM_005144.5(HR):c.3253C>G (p.Pro1085Ala) rs143782421 0.00633
NM_005144.5(HR):c.*756G>T rs116456103 0.00573
NM_005144.5(HR):c.2617T>C (p.Leu873=) rs116376389 0.00542
NM_005144.5(HR):c.3192C>T (p.Arg1064=) rs114507110 0.00527
NM_005144.5(HR):c.3213+10C>T rs116703265 0.00522
NM_005144.5(HR):c.1727C>T (p.Ala576Val) rs76294724 0.00512
NM_005144.5(HR):c.205C>T (p.Pro69Ser) rs78621054 0.00328
NM_005144.5(HR):c.*75G>A rs114993748 0.00298
NM_005144.5(HR):c.*931T>C rs76436208 0.00289
NM_005144.5(HR):c.1956C>T (p.Ala652=) rs78939934 0.00264
NM_005144.5(HR):c.970C>T (p.Arg324Trp) rs143170974 0.00233
NM_005144.5(HR):c.2862T>A (p.Ala954=) rs148407688 0.00225
NM_005144.5(HR):c.1557-13G>A rs113141789 0.00205
NM_005144.5(HR):c.1517A>G (p.Glu506Gly) rs112016555 0.00203
NM_005144.5(HR):c.2526A>C (p.Pro842=) rs371431900 0.00199
NM_005144.5(HR):c.1380C>T (p.Asp460=) rs147308644 0.00196
NM_005144.5(HR):c.3250G>A (p.Ala1084Thr) rs201956860 0.00177
NM_005144.5(HR):c.3507+12G>A rs79262499 0.00140
NM_005144.5(HR):c.2104G>T (p.Gly702Trp) rs138941448 0.00134
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_005144.5(HR):c.*180G>A rs564901808 0.00066
NM_005144.5(HR):c.-599C>T rs759359391 0.00066
NM_005144.5(HR):c.1527G>A (p.Gly509=) rs73549518 0.00055
NM_005144.5(HR):c.184C>A (p.Pro62Thr) rs137929972 0.00053
NM_005144.5(HR):c.1572G>A (p.Gly524=) rs149811800 0.00050
NM_005144.5(HR):c.3309C>T (p.Gly1103=) rs558767137 0.00046
NM_005144.5(HR):c.1772A>G (p.Glu591Gly) rs137912857 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_005144.5(HR):c.333C>T (p.Cys111=) rs143223831 0.00034
NM_005144.5(HR):c.3228G>A (p.Gly1076=) rs570553679 0.00031
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_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_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_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_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_005144.5(HR):c.*1253T>C rs556731235 0.00013
NM_005144.5(HR):c.*30G>T rs369058841 0.00012
NM_005144.5(HR):c.*294C>T rs550603067 0.00011
NM_005144.5(HR):c.*734G>A rs536800865 0.00009
NM_005144.5(HR):c.*894G>A rs564636595 0.00009
NM_005144.5(HR):c.84C>T (p.Pro28=) rs543229110 0.00009
NM_005144.5(HR):c.*76G>T rs769096804 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_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_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_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.301G>A (p.Glu101Lys) rs28585381 0.00003
NM_005144.5(HR):c.415C>T (p.Arg139Trp) rs148782064 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_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_001394132.1(HRURF):c.-5G>A rs886062810
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.1858C>G (p.Arg620Gly) rs200843097
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.2347G>T (p.Val783Phe) rs766897426
NM_005144.5(HR):c.2507G>T (p.Arg836Leu) rs201739936
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.3249C>A (p.Gly1083=) rs552153164
NM_005144.5(HR):c.3296G>T (p.Arg1099Leu) rs771604649
NM_005144.5(HR):c.3339C>A (p.Pro1113=) rs112173147
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.37A>G (p.Thr13Ala) rs143316642
NM_005144.5(HR):c.639T>A (p.Ile213=) rs1826939895

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