ClinVar Miner

List of variants reported as likely benign for Iodotyrosyl coupling defect

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_003235.5(TG):c.1332C>T (p.Ile444=) rs61741629 0.02324
NM_003235.5(TG):c.6055+7A>G rs73353474 0.02313
NM_003235.5(TG):c.1821C>T (p.Thr607=) rs61742713 0.02018
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) rs61743198 0.01391
NM_003235.5(TG):c.4365C>T (p.Asp1455=) rs57453794 0.01068
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_003235.5(TG):c.2761+14T>C rs76286566 0.00834
NM_003235.5(TG):c.1890A>G (p.Gln630=) rs2228590 0.00831
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) rs74590117 0.00151
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) rs2979042 0.00008
NM_003235.5(TG):c.3197G>A (p.Arg1066His) rs116119508 0.00002
NM_003235.5(TG):c.2488C>G (p.Gln830Glu) rs2076737 0.00001
NM_003235.5(TG):c.2761+11G>T rs77660463
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) rs16893332
NM_003235.5(TG):c.478+15G>A rs141561325
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) rs61730222
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) rs10091530

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