ClinVar Miner

List of variants in gene TG reported as pathogenic for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp) rs370991693 0.00003
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.1143del (p.Tyr382fs) rs778849740 0.00001
NM_003235.5(TG):c.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) rs898275076 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
NM_003235.5(TG):c.266dup (p.Val90fs) rs1554649344
NM_003235.5(TG):c.275-3C>G rs1587166863
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) rs137854433
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) rs121912647
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) rs121912649
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) rs2076739
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003235.5(TG):c.6200-1G>C rs1587678058
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.6397+2T>A rs2130888037
NM_003235.5(TG):c.649dup (p.Ala217fs) rs1814692109
NM_003235.5(TG):c.6610del (p.Ser2204fs)
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) rs1852105706

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