ClinVar Miner

List of variants studied for alopecia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu) rs4799570 0.93107
NM_177986.5(DSG4):c.495C>T (p.Ser165=) rs9956865 0.78725
NM_177986.5(DSG4):c.3066C>A (p.Pro1022=) rs7234288 0.72694
NM_177986.5(DSG4):c.258G>A (p.Arg86=) rs16959856 0.70447
NM_001394132.1(HRURF):c.-294T>G rs6557841 0.65210
NM_005144.5(HR):c.1305T>C (p.Phe435=) rs12675745 0.63572
NM_177986.5(DSG4):c.2748A>G (p.Pro916=) rs12960081 0.40506
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_177986.5(DSG4):c.*31C>T rs7234333 0.15278
NM_177986.5(DSG4):c.30C>T (p.Cys10=) rs36101975 0.13937
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_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_005144.5(HR):c.1190G>A (p.Cys397Tyr) rs73549523 0.06592
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
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_177986.5(DSG4):c.3069G>A (p.Met1023Ile) rs60800275 0.02223
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala) rs61734847 0.02068
NM_177986.5(DSG4):c.*126G>A rs59818622 0.02017
NM_177986.5(DSG4):c.*71A>G rs57543172 0.02014
NM_005144.5(HR):c.*820G>C rs142767236 0.01950
NM_177986.5(DSG4):c.1604T>C (p.Ile535Thr) rs7229252 0.01924
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_177986.5(DSG4):c.855G>A (p.Ser285=) rs35210710 0.01371
NM_005144.5(HR):c.*81C>T rs114329519 0.01316
NM_177986.5(DSG4):c.1539C>T (p.Ile513=) rs9945567 0.01287
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_177986.5(DSG4):c.2391A>C (p.Arg797=) rs112653254 0.01253
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_177986.5(DSG4):c.1487A>G (p.Asn496Ser) rs117510013 0.01169
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_177986.5(DSG4):c.21A>G (p.Arg7=) rs75549650 0.01050
NM_007373.4(SHOC2):c.*1487G>T rs7074770 0.01049
NM_177986.5(DSG4):c.2442C>T (p.Pro814=) rs73410297 0.00911
NM_005144.5(HR):c.1359G>A (p.Ser453=) rs78489044 0.00909
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_177986.5(DSG4):c.1316T>C (p.Ile439Thr) rs113255372 0.00691
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_177986.5(DSG4):c.1278-13T>C rs16961847 0.00591
NM_005144.5(HR):c.*756G>T rs116456103 0.00573
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
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_007373.4(SHOC2):c.-244G>T rs192673935 0.00499
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697 0.00424
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
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_005144.5(HR):c.205C>T (p.Pro69Ser) rs78621054 0.00328
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_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_005144.5(HR):c.*75G>A rs114993748 0.00298
NM_005144.5(HR):c.*931T>C rs76436208 0.00289
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
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_177986.5(DSG4):c.2366C>T (p.Ala789Val) rs144490546 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_177986.5(DSG4):c.2166G>A (p.Gly722=) rs74755361 0.00188
NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly) rs150706241 0.00185
NM_005144.5(HR):c.3250G>A (p.Ala1084Thr) rs201956860 0.00177
NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg) rs150676638 0.00172
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_177986.5(DSG4):c.460G>A (p.Ala154Thr) rs13381457 0.00143
NM_005144.5(HR):c.3507+12G>A rs79262499 0.00140
NM_005144.5(HR):c.2104G>T (p.Gly702Trp) rs138941448 0.00134
NM_177986.5(DSG4):c.1128T>C (p.Val376=) rs143590546 0.00134
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
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.*3T>C rs143187497 0.00097
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_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
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.1572G>A (p.Gly524=) rs149811800 0.00050
NM_177986.5(DSG4):c.2589A>C (p.Pro863=) rs148491546 0.00048
NM_005144.5(HR):c.3309C>T (p.Gly1103=) rs558767137 0.00046
NM_007373.4(SHOC2):c.*1062dup rs530047047 0.00045
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_007373.4(SHOC2):c.*506_*509del rs371679867 0.00037
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_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_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
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_007373.4(SHOC2):c.841+12G>A rs201258692 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_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.*16C>A rs753327392 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_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
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.*894G>A rs564636595 0.00009
NM_005144.5(HR):c.84C>T (p.Pro28=) rs543229110 0.00009
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 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.2796T>G (p.Asn932Lys) rs373510855 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_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 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_007373.4(SHOC2):c.*20C>T rs371005619 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.301G>A (p.Glu101Lys) rs28585381 0.00003
NM_005144.5(HR):c.415C>T (p.Arg139Trp) rs148782064 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_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_177986.5(DSG4):c.*55C>T rs924238636 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_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.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr) rs751292868 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
NM_001394132.1(HRURF):c.-258CCGCCGCGCTCT[3] rs568964531
NM_001394132.1(HRURF):c.-5G>A rs886062810
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.*1251dup rs11446222
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
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.*1775del rs527775221
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.1284+15G>A rs770745229
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) rs1847632082
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.973-5del rs730881016
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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