ClinVar Miner

List of variants reported as likely pathogenic 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: 11
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)

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