ClinVar Miner

List of variants studied for thyroid gland disorder by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.2608-147C>T rs11238441 0.17019
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_001555.5(IGSF1):c.668-8G>A rs181264169 0.00322
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) rs369313070 0.00001
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe)
NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr)
NM_001555.5(IGSF1):c.113C>T (p.Pro38Leu)
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)
NM_020975.6(RET):c.143C>T (p.Thr48Met) rs1427186016
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) rs377767411
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_177438.3(DICER1):c.712del (p.Thr238fs) rs2140259982

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