ClinVar Miner

List of variants reported as likely benign for thyroid gland disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000369.5(TSHR):c.*1154dup rs3214569 0.85459
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) rs73406334 0.07585
NM_001363711.2(DUOX2):c.2148+9C>T rs73406337 0.07581
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) rs113400262 0.04972
NM_001363711.2(DUOX2):c.-42C>G rs112353868 0.04827
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_000453.3(SLC5A5):c.-70C>T rs118133504 0.03423
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) rs78412174 0.03060
NM_000369.5(TSHR):c.*1813T>A rs58832257 0.02711
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) rs61730032 0.02613
NM_000453.3(SLC5A5):c.*987G>C rs76103356 0.02581
NM_000369.5(TSHR):c.*474G>T rs61266735 0.02495
NM_003235.5(TG):c.1332C>T (p.Ile444=) rs61741629 0.02324
NM_001363711.2(DUOX2):c.1693+10G>A rs76411432 0.02317
NM_003235.5(TG):c.6055+7A>G rs73353474 0.02313
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_000453.3(SLC5A5):c.1330-15C>T rs77947605 0.02076
NM_000453.3(SLC5A5):c.-24C>A rs73518702 0.02058
NM_001206744.2(TPO):c.1032C>G (p.Thr344=) rs28910597 0.02028
NM_003235.5(TG):c.1821C>T (p.Thr607=) rs61742713 0.02018
NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=) rs45602038 0.02003
NM_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745 0.01778
NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys) rs61743974 0.01750
NM_000369.5(TSHR):c.*18C>A rs77789619 0.01748
NM_000453.3(SLC5A5):c.546C>T (p.Gly182=) rs8103545 0.01705
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) rs114796303 0.01634
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_001354712.2(THRB):c.*4611del rs147687234 0.01502
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_001206744.2(TPO):c.1566T>C (p.Ala522=) rs17091745 0.01414
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) rs61743198 0.01391
NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=) rs79480907 0.01330
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_000369.5(TSHR):c.*1289A>G rs150122093 0.01236
NM_000453.3(SLC5A5):c.-36C>T rs116154266 0.01157
NM_003235.5(TG):c.4365C>T (p.Asp1455=) rs57453794 0.01068
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_003235.5(TG):c.2761+14T>C rs76286566 0.00834
NM_003235.5(TG):c.1890A>G (p.Gln630=) rs2228590 0.00831
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_001363711.2(DUOX2):c.3042G>A (p.Ala1014=) rs112598817 0.00449
NM_000453.3(SLC5A5):c.*215C>T rs13344000 0.00387
NM_001363711.2(DUOX2):c.501C>T (p.Asn167=) rs76681174 0.00333
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) rs74590117 0.00151
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_000453.3(SLC5A5):c.*551G>A rs141730977 0.00131
NM_001363711.2(DUOX2):c.303C>A (p.Arg101=) rs117041393 0.00124
NM_001354712.2(THRB):c.*1372C>A rs147542176 0.00081
NM_000477.7(ALB):c.531A>T (p.Glu177Asp) rs149432908 0.00056
NM_000477.7(ALB):c.323A>G (p.Tyr108Cys) rs142714816 0.00052
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_000477.7(ALB):c.1446C>T (p.Asn482=) rs59597814 0.00049
NM_001206744.2(TPO):c.404C>A (p.Pro135His) rs61758083 0.00034
NM_001354712.2(THRB):c.1125C>T (p.Ala375=) rs148991421 0.00033
NM_003466.4(PAX8):c.1242C>T (p.Ser414=) rs200817352 0.00029
NM_000369.5(TSHR):c.1206C>T (p.Ser402=) rs150524100 0.00026
NM_000477.7(ALB):c.1434C>T (p.Ser478=) rs139400924 0.00024
NM_000477.7(ALB):c.-13C>T rs369763404 0.00021
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001354712.2(THRB):c.283+12T>C rs372413180 0.00013
NM_001354712.2(THRB):c.1053C>T (p.Asp351=) rs115445992 0.00011
NM_001354712.2(THRB):c.*4714T>C rs577889185 0.00009
NM_001354712.2(THRB):c.68G>A (p.Arg23Gln) rs200124942 0.00009
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) rs2979042 0.00008
NM_001363711.2(DUOX2):c.1786C>T (p.Pro596Ser) rs373790251 0.00006
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) rs368452281 0.00004
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_001354712.2(THRB):c.*1861A>G rs529916834 0.00002
NM_003235.5(TG):c.3197G>A (p.Arg1066His) rs116119508 0.00002
NM_000477.7(ALB):c.1073A>G (p.Tyr358Cys) rs537985931 0.00001
NM_003235.5(TG):c.2488C>G (p.Gln830Glu) rs2076737 0.00001
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000453.3(SLC5A5):c.*645C>G rs146285354
NM_000477.7(ALB):c.*88G>T rs11538204
NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly) rs61758082
NM_001206744.2(TPO):c.2007-9_2007-7del rs28991288
NM_001354712.2(THRB):c.*1750del rs147125300
NM_001354712.2(THRB):c.*1776dup rs536659624
NM_001354712.2(THRB):c.*2572ATTG[3] rs144580659
NM_001354712.2(THRB):c.*3324dup rs35554555
NM_001354712.2(THRB):c.*570dup rs569875966
NM_001354712.2(THRB):c.*900del rs373141874
NM_001363711.2(DUOX2):c.*591C>T rs11070441
NM_001363711.2(DUOX2):c.2944C>G (p.Pro982Ala) rs61730030
NM_002241.5(KCNJ10):c.*1970GT[23] rs56656397
NM_003235.5(TG):c.2761+11G>T rs77660463
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) rs16893332
NM_003235.5(TG):c.478+15G>A rs141561325
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) rs61730222
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) rs10091530
NM_203395.3(IYD):c.*460_*461del rs61597872

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