ClinVar Miner

List of variants studied for thyroid gland disorder by Mendelics

Included ClinVar conditions (106):
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ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly) rs2576090 0.86315
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) rs732609 0.46998
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp) rs200238968 0.00029
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180 0.00009
NM_020975.6(RET):c.961G>A (p.Gly321Arg) rs377767388 0.00009
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) rs757031354 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu) rs779943666 0.00003
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00002
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_001007792.1(NTRK1):c.10-562dup rs761392074 0.00001
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) rs761247634 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) rs1306924167 0.00001
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) rs547972574 0.00001
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_020975.6(RET):c.1183G>C (p.Val395Leu) rs1452469572 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1907C>T (p.Thr636Met) rs1035958105 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2289C>T (p.Asn763=) rs777349208 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) rs200989078 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro) rs1595178231
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_001007792.1(NTRK1):c.37del (p.Val13fs) rs1451820799
NM_001206744.2(TPO):c.2644C>G (p.Leu882Val) rs1572058655
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg) rs1318079339
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) rs989763340
NM_003235.5(TG):c.946G>A (p.Val316Ile) rs1001892478
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) rs1564494424
NM_020975.6(RET):c.1466A>T (p.Asp489Val) rs923351888
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) rs372648203
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) rs766278774
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) rs377767415
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) rs587778657
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.2834T>C (p.Val945Ala) rs1408196943
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.428C>T (p.Ala143Val) rs1564490082
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) rs768132465
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.74-50G>T rs766786245
NM_199334.5(THRA):c.425G>T (p.Arg142Leu) rs1598396222

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