ClinVar Miner

List of variants reported as benign for Iodotyrosyl coupling defect by Genome-Nilou Lab

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.68-26T>C rs180203 0.99474
NM_003235.5(TG):c.5401+49G>C rs2246611 0.80881
NM_003235.5(TG):c.5234-30C>T rs2246624 0.78947
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326 0.60503
NM_003235.5(TG):c.4002+39C>G rs853318 0.60281
NM_003235.5(TG):c.2334T>C (p.Pro778=) rs2069550 0.59900
NM_003235.5(TG):c.7501T>C (p.Trp2501Arg) rs2069569 0.59881
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) rs1133076 0.55773
NM_003235.5(TG):c.4506T>C (p.Ala1502=) rs853304 0.55069
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) rs2294024 0.49806
NM_003235.5(TG):c.3848-20T>C rs2261147 0.47593
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) rs2069556 0.47427
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) rs2069561 0.39534
NM_003235.5(TG):c.7408C>T (p.Leu2470=) rs2069568 0.38502
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740 0.36874
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223

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