ClinVar Miner

List of variants reported as uncertain significance 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: 13
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HGVS dbSNP gnomAD frequency
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_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) rs369313070 0.00001
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.6842G>A (p.Cys2281Tyr)
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

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