ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP
NM_001269039.2(SHOC2):c.-346T>G
NM_005144.4(HR):c.*1150C>T rs185853861
NM_005144.4(HR):c.*1251dup rs11446222
NM_005144.4(HR):c.*1262G>C rs537998785
NM_005144.4(HR):c.*180G>A rs564901808
NM_005144.4(HR):c.*185C>G rs886062804
NM_005144.4(HR):c.*218T>C rs74869265
NM_005144.4(HR):c.*240C>A rs6994872
NM_005144.4(HR):c.*294C>T rs550603067
NM_005144.4(HR):c.*303G>A rs181310087
NM_005144.4(HR):c.*30G>T rs369058841
NM_005144.4(HR):c.*597C>T rs886062803
NM_005144.4(HR):c.*734G>A rs536800865
NM_005144.4(HR):c.*751G>C rs777189827
NM_005144.4(HR):c.*81C>T rs114329519
NM_005144.4(HR):c.*820G>A rs142767236
NM_005144.4(HR):c.*820G>C rs142767236
NM_005144.4(HR):c.*82G>T rs112057122
NM_005144.4(HR):c.*894G>A rs564636595
NM_005144.4(HR):c.*931T>C rs76436208
NM_005144.4(HR):c.-136C>T rs766260543
NM_005144.4(HR):c.-326G>A rs886062810
NM_005144.4(HR):c.-333T>C rs147674174
NM_005144.4(HR):c.-411C>T rs541887689
NM_005144.4(HR):c.-439A>G rs886062811
NM_005144.4(HR):c.-443G>C rs886062812
NM_005144.4(HR):c.-615T>G rs6557841
NM_005144.4(HR):c.-621T>C rs886062813
NM_005144.4(HR):c.1010G>A (p.Gly337Asp) rs12675375
NM_005144.4(HR):c.1055C>T (p.Ala352Val) rs115396678
NM_005144.4(HR):c.1190G>A (p.Cys397Tyr) rs73549523
NM_005144.4(HR):c.120G>A (p.Pro40=) rs757776752
NM_005144.4(HR):c.1276C>T (p.Pro426Ser) rs151036296
NM_005144.4(HR):c.1305T>C (p.Phe435=) rs12675745
NM_005144.4(HR):c.1346T>G (p.Val449Gly) rs144744042
NM_005144.4(HR):c.1360A>G (p.Ile454Val) rs886062809
NM_005144.4(HR):c.1458A>G (p.Pro486=) rs144643140
NM_005144.4(HR):c.1461C>T (p.Cys487=) rs78703240
NM_005144.4(HR):c.1484C>G (p.Ala495Gly) rs766524987
NM_005144.4(HR):c.1507G>A (p.Ala503Thr) rs115643651
NM_005144.4(HR):c.1517A>G (p.Glu506Gly) rs112016555
NM_005144.4(HR):c.1527G>A (p.Gly509=) rs73549518
NM_005144.4(HR):c.1557-13G>A rs113141789
NM_005144.4(HR):c.1572G>A (p.Gly524=) rs149811800
NM_005144.4(HR):c.1577T>C (p.Leu526Pro) rs56140348
NM_005144.4(HR):c.1583A>G (p.Gln528Arg) rs74596676
NM_005144.4(HR):c.1632C>T (p.Ser544=) rs148562279
NM_005144.4(HR):c.184C>A (p.Pro62Thr) rs137929972
NM_005144.4(HR):c.1858C>G (p.Arg620Gly) rs200843097
NM_005144.4(HR):c.1859G>A (p.Arg620Gln) rs117197822
NM_005144.4(HR):c.188C>G (p.Pro63Arg) rs73549525
NM_005144.4(HR):c.1907A>G (p.Glu636Gly) rs75362423
NM_005144.4(HR):c.2006-4C>T rs886062808
NM_005144.4(HR):c.205C>T (p.Pro69Ser) rs78621054
NM_005144.4(HR):c.2104G>T (p.Gly702Trp) rs138941448
NM_005144.4(HR):c.2166C>T (p.Cys722=) rs200854129
NM_005144.4(HR):c.2203+6C>T rs761298317
NM_005144.4(HR):c.2211C>T (p.Pro737=) rs77689228
NM_005144.4(HR):c.2212G>A (p.Asp738Asn) rs886062807
NM_005144.4(HR):c.2217C>T (p.Ser739=) rs574361484
NM_005144.4(HR):c.2298G>A (p.Ala766=) rs145225497
NM_005144.4(HR):c.2367+14C>T rs112532092
NM_005144.4(HR):c.2367T>C (p.Ser789=) rs58080661
NM_005144.4(HR):c.2370T>C (p.Asp790=) rs57903149
NM_005144.4(HR):c.2467G>A (p.Gly823Ser) rs76547188
NM_005144.4(HR):c.2507G>T (p.Arg836Leu) rs201739936
NM_005144.4(HR):c.2526A>C (p.Pro842=) rs371431900
NM_005144.4(HR):c.2566C>G (p.Arg856Gly) rs377059643
NM_005144.4(HR):c.2566C>T (p.Arg856Trp) rs377059643
NM_005144.4(HR):c.2570G>A (p.Arg857His) rs114871775
NM_005144.4(HR):c.2617T>C (p.Leu873=) rs116376389
NM_005144.4(HR):c.2733C>A (p.Ser911Arg) rs11990451
NM_005144.4(HR):c.2777-10C>T rs767116700
NM_005144.4(HR):c.27G>A (p.Lys9=) rs77620102
NM_005144.4(HR):c.2862T>A (p.Ala954=) rs148407688
NM_005144.4(HR):c.3049C>T (p.Leu1017=) rs554642882
NM_005144.4(HR):c.3064A>G (p.Thr1022Ala) rs7014851
NM_005144.4(HR):c.3098-13C>G rs886062806
NM_005144.4(HR):c.3192C>T (p.Arg1064=) rs114507110
NM_005144.4(HR):c.3213+10C>T rs116703265
NM_005144.4(HR):c.3250G>A (p.Ala1084Thr) rs201956860
NM_005144.4(HR):c.3296G>T (p.Arg1099Leu) rs771604649
NM_005144.4(HR):c.3339C>A (p.Pro1113=) rs112173147
NM_005144.4(HR):c.333C>T (p.Cys111=) rs143223831
NM_005144.4(HR):c.3340G>A (p.Gly1114Arg) rs886062805
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_005144.4(HR):c.3537G>A (p.Lys1179=) rs779312247
NM_005144.4(HR):c.3544G>A (p.Val1182Met) rs753736200
NM_005144.4(HR):c.37A>G (p.Thr13Ala) rs143316642
NM_005144.4(HR):c.415C>T (p.Arg139Trp) rs148782064
NM_005144.4(HR):c.85G>A (p.Gly29Ser) rs774239265
NM_005144.4(HR):c.956C>T (p.Pro319Leu) rs77758962
NM_005144.4(HR):c.970C>T (p.Arg324Trp) rs143170974
NM_005144.5(HR):c.*1020C>A
NM_005144.5(HR):c.*1054C>T
NM_005144.5(HR):c.*1125C>T
NM_005144.5(HR):c.*1145C>T
NM_005144.5(HR):c.*1253T>C
NM_005144.5(HR):c.*1270T>C
NM_005144.5(HR):c.*295G>A
NM_005144.5(HR):c.*420C>T
NM_005144.5(HR):c.*579C>T
NM_005144.5(HR):c.*599T>G
NM_005144.5(HR):c.*617G>C
NM_005144.5(HR):c.*746C>G
NM_005144.5(HR):c.*756G>T
NM_005144.5(HR):c.*75G>A
NM_005144.5(HR):c.*76G>T
NM_005144.5(HR):c.*885C>T
NM_005144.5(HR):c.*904C>T
NM_005144.5(HR):c.-106G>A
NM_005144.5(HR):c.-380C>T
NM_005144.5(HR):c.-40-14T>C
NM_005144.5(HR):c.-469C>T
NM_005144.5(HR):c.-572G>C
NM_005144.5(HR):c.-599C>T
NM_005144.5(HR):c.1077C>T (p.Ser359=)
NM_005144.5(HR):c.1359G>A (p.Ser453=)
NM_005144.5(HR):c.136C>G (p.Pro46Ala)
NM_005144.5(HR):c.1380C>T (p.Asp460=)
NM_005144.5(HR):c.1440G>A (p.Pro480=)
NM_005144.5(HR):c.1469T>G (p.Leu490Arg)
NM_005144.5(HR):c.1492C>G (p.Gln498Glu)
NM_005144.5(HR):c.1552C>T (p.Arg518Trp)
NM_005144.5(HR):c.1557-10C>T
NM_005144.5(HR):c.1571G>A (p.Gly524Glu)
NM_005144.5(HR):c.1575G>A (p.Glu525=)
NM_005144.5(HR):c.1584G>A (p.Gln528=)
NM_005144.5(HR):c.1618G>A (p.Glu540Lys)
NM_005144.5(HR):c.1662C>T (p.Leu554=)
NM_005144.5(HR):c.1727C>T (p.Ala576Val)
NM_005144.5(HR):c.1745G>A (p.Arg582Gln)
NM_005144.5(HR):c.1766T>C (p.Val589Ala)
NM_005144.5(HR):c.1772A>G (p.Glu591Gly)
NM_005144.5(HR):c.1853G>A (p.Ser618Asn)
NM_005144.5(HR):c.1934C>A (p.Ala645Glu)
NM_005144.5(HR):c.1956C>T (p.Ala652=)
NM_005144.5(HR):c.2104G>A (p.Gly702Arg)
NM_005144.5(HR):c.2347G>T (p.Val783Phe)
NM_005144.5(HR):c.234C>T (p.Gly78=)
NM_005144.5(HR):c.2354C>T (p.Pro785Leu)
NM_005144.5(HR):c.2355G>A (p.Pro785=)
NM_005144.5(HR):c.2412G>C (p.Val804=)
NM_005144.5(HR):c.2522C>T (p.Pro841Leu)
NM_005144.5(HR):c.2776+4A>G
NM_005144.5(HR):c.2828G>A (p.Gly943Glu)
NM_005144.5(HR):c.293G>A (p.Arg98His)
NM_005144.5(HR):c.2953G>A (p.Glu985Lys)
NM_005144.5(HR):c.2993G>A (p.Arg998Gln)
NM_005144.5(HR):c.301G>A (p.Glu101Lys)
NM_005144.5(HR):c.3216G>A (p.Val1072=)
NM_005144.5(HR):c.3221C>T (p.Pro1074Leu)
NM_005144.5(HR):c.3228G>A (p.Gly1076=)
NM_005144.5(HR):c.3249C>A (p.Gly1083=)
NM_005144.5(HR):c.3253C>G (p.Pro1085Ala)
NM_005144.5(HR):c.3309C>T (p.Gly1103=)
NM_005144.5(HR):c.3406G>A (p.Val1136Ile)
NM_005144.5(HR):c.3507+12G>A
NM_005144.5(HR):c.550C>A (p.His184Asn)
NM_005144.5(HR):c.639T>A (p.Ile213=)
NM_005144.5(HR):c.84C>T (p.Pro28=)
NM_005144.5(HR):c.877G>A (p.Val293Ile)
NM_005144.5(HR):c.974G>A (p.Gly325Asp)
NM_007373.3(SHOC2):c.*1062dup rs530047047
NM_007373.3(SHOC2):c.*1106A>C rs118172559
NM_007373.3(SHOC2):c.*1218C>T rs886046735
NM_007373.3(SHOC2):c.*1245T>C rs754913685
NM_007373.3(SHOC2):c.*1323C>T rs371721188
NM_007373.3(SHOC2):c.*1324G>A rs559572636
NM_007373.3(SHOC2):c.*1483G>A rs180979375
NM_007373.3(SHOC2):c.*1486dup rs549502834
NM_007373.3(SHOC2):c.*1487G>T rs7074770
NM_007373.3(SHOC2):c.*1487del rs143768227
NM_007373.3(SHOC2):c.*1503A>G rs1327552
NM_007373.3(SHOC2):c.*1575A>G rs886046736
NM_007373.3(SHOC2):c.*164T>A rs191293913
NM_007373.3(SHOC2):c.*16C>A rs753327392
NM_007373.3(SHOC2):c.*1775T>C rs535776105
NM_007373.3(SHOC2):c.*1775del rs527775221
NM_007373.3(SHOC2):c.*3T>C rs143187497
NM_007373.3(SHOC2):c.*404A>G rs539394184
NM_007373.3(SHOC2):c.*506_*509del rs371679867
NM_007373.3(SHOC2):c.*518T>C rs886046731
NM_007373.3(SHOC2):c.*614T>G rs886046732
NM_007373.3(SHOC2):c.*625del rs886046733
NM_007373.3(SHOC2):c.*656C>G rs557334390
NM_007373.3(SHOC2):c.*697C>T rs189140753
NM_007373.3(SHOC2):c.*773G>A rs114628508
NM_007373.3(SHOC2):c.*914G>A rs189223963
NM_007373.3(SHOC2):c.*958C>A rs372493479
NM_007373.3(SHOC2):c.-114C>G
NM_007373.3(SHOC2):c.-244G>T rs192673935
NM_007373.3(SHOC2):c.-254C>T rs886046728
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1284+15G>A rs770745229
NM_007373.3(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) rs751292868
NM_007373.3(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.3(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.3(SHOC2):c.841+12G>A rs201258692
NM_007373.3(SHOC2):c.973-5del rs730881016
NM_007373.4(SHOC2):c.*1269A>G
NM_007373.4(SHOC2):c.*1381G>C
NM_007373.4(SHOC2):c.*1508G>T
NM_007373.4(SHOC2):c.*20C>T
NM_007373.4(SHOC2):c.*685C>T
NM_007373.4(SHOC2):c.*825G>A
NM_007373.4(SHOC2):c.*979C>T
NM_007373.4(SHOC2):c.*990T>G
NM_007373.4(SHOC2):c.-159T>C rs72819758
NM_007373.4(SHOC2):c.-179T>A rs143180451
NM_007373.4(SHOC2):c.-235+15A>G
NM_007373.4(SHOC2):c.-259G>A
NM_007373.4(SHOC2):c.-264A>T
NM_007373.4(SHOC2):c.1215A>G (p.Val405=)
NM_007373.4(SHOC2):c.1423-7C>T rs180671383
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)
NM_018411.4(HR):c.-579_-568CCGCCGCGCTCT[3] rs568964531
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.2104G>A (p.Ala702Thr)
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.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.855G>A (p.Ser285=) rs35210710
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

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