ClinVar Miner

List of variants studied for thyroid gland disorder by Baylor Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_003235.5(TG):c.958C>T (p.Arg320Cys) rs138561283 0.00042
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_199334.5(THRA):c.54-1G>A rs199530759 0.00008
NM_001379150.1(IRS4):c.3215C>T (p.Ala1072Val) rs148098273 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys) rs768830989 0.00002
NM_003466.4(PAX8):c.1277-10A>G rs893315047 0.00002
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) rs760625882 0.00002
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_003235.5(TG):c.2276A>G (p.Tyr759Cys) rs766295732 0.00001
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) rs1016185504 0.00001
NM_003235.5(TG):c.6988G>A (p.Val2330Met) rs752587385 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.530G>A (p.Arg177Gln) rs759229505 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_177438.3(DICER1):c.128C>T (p.Thr43Met) rs367797765 0.00001
NM_177438.3(DICER1):c.3380T>G (p.Ile1127Ser) rs567895583 0.00001
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000369.5(TSHR):c.1270G>A (p.Val424Ile) rs587778742
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.2282A>C (p.Gln761Pro) rs1891848268
NM_000369.5(TSHR):c.480C>A (p.Asp160Glu)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser) rs779996743
NM_000441.2(SLC26A4):c.765+4A>T rs774353111
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) rs121909177
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter) rs200273438
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro) rs1672384154
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu)
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter) rs1220996970
NM_003235.5(TG):c.2639C>T (p.Pro880Leu) rs201893722
NM_003235.5(TG):c.2697G>C (p.Trp899Cys)
NM_003235.5(TG):c.7220T>C (p.Phe2407Ser)
NM_003235.5(TG):c.7222C>T (p.Arg2408Trp)
NM_003235.5(TG):c.7663C>T (p.Arg2555Cys) rs370013278
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) rs1852105706
NM_003466.4(PAX8):c.777G>C (p.Gln259His) rs1395652316
NM_005647.4(TBL1X):c.1648T>C (p.Phe550Leu)
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
NM_015965.7(NDUFA13):c.94+1G>A
NM_020975.6(RET):c.1232C>G (p.Ser411Cys) rs2132746693
NM_020975.6(RET):c.1942G>T (p.Val648Phe) rs77711105
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp) rs945693739
NM_024077.5(SECISBP2):c.1089+2T>C
NM_024077.5(SECISBP2):c.137C>G (p.Ser46Cys) rs1027713548
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.3(DICER1):c.2157dup (p.Val720fs) rs1891948958
NM_177438.3(DICER1):c.3839G>T (p.Ser1280Ile) rs1595364485
NM_177438.3(DICER1):c.3988del (p.Tyr1330fs) rs1595363945
NM_177438.3(DICER1):c.571A>C (p.Lys191Gln) rs2140266023

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