ClinVar Miner

List of variants studied for Iodotyrosyl coupling defect by Revvity Omics, Revvity

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_003235.5(TG):c.1802C>T (p.Thr601Met) rs139516987 0.00048
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) rs142998186 0.00042
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln) rs139187590 0.00039
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp) rs185061531 0.00036
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00036
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
NM_003235.5(TG):c.1273A>G (p.Met425Val) rs759846480 0.00015
NM_003235.5(TG):c.2936G>A (p.Arg979Gln) rs143609789 0.00008
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys) rs375071844 0.00008
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln) rs755300748 0.00005
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) rs555719562 0.00004
NM_003235.5(TG):c.2311C>T (p.Gln771Ter) rs778743706 0.00003
NM_003235.5(TG):c.2239T>A (p.Ser747Thr) rs747501859 0.00002
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys) rs764239765 0.00002
NM_003235.5(TG):c.1451A>T (p.Asn484Ile) rs777190518 0.00001
NM_003235.5(TG):c.1835C>G (p.Pro612Arg) rs772505924 0.00001
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu) rs201193012 0.00001
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro) rs776093551 0.00001
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) rs114115584
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn) rs114772213
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe) rs759423976
NM_003235.5(TG):c.6397+2T>A rs2130888037
NM_003235.5(TG):c.6444A>G (p.Gln2148=) rs61740824
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn) rs2536840206
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)

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