ClinVar Miner

List of variants in gene TG reported as pathogenic by OMIM

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.1143del (p.Tyr382fs) rs778849740 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
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.5690G>A (p.Cys1897Tyr) rs121912649
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) rs2076739
NM_003235.5(TG):c.6200-1G>C rs1587678058
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650

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