ClinVar Miner

List of variants reported as likely pathogenic for thyroid gland disorder by Baylor Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
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_177438.3(DICER1):c.3988del (p.Tyr1330fs) rs1595363945

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