ClinVar Miner

List of variants reported as benign for Immunodeficiency 35 by Illumina Laboratory Services, Illumina

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_003331.5(TYK2):c.1477-6T>C rs280520 0.27974
NM_003331.5(TYK2):c.1084G>T (p.Val362Phe) rs2304256 0.23154
NM_003331.5(TYK2):c.-132T>C rs280500 0.19243
NM_003331.5(TYK2):c.2311+11G>C rs12720299 0.11737
NM_003331.5(TYK2):c.516C>T (p.Thr172=) rs280523 0.09872
NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) rs12720356 0.06169
NM_003331.5(TYK2):c.1087G>A (p.Gly363Ser) rs2304255 0.05403
NM_003331.5(TYK2):c.2716-10T>G rs12720319 0.02834
NM_003331.5(TYK2):c.*134A>G rs12720334 0.02833
NM_003331.5(TYK2):c.1848T>G (p.Pro616=) rs12720276 0.02503
NM_003331.5(TYK2):c.1953C>T (p.Ile651=) rs12720355 0.00992
NM_003331.5(TYK2):c.2459C>A (p.Pro820His) rs34046749 0.00848
NM_003331.5(TYK2):c.942C>T (p.His314=) rs12720266 0.00844
NM_003331.5(TYK2):c.590G>A (p.Arg197His) rs12720263 0.00804
NM_003331.5(TYK2):c.-151T>G rs12720221 0.00738
NM_003331.5(TYK2):c.157G>A (p.Ala53Thr) rs55762744 0.00716
NM_003331.5(TYK2):c.-21+7T>G rs77948647 0.00645
NM_003331.5(TYK2):c.-378A>G rs17000730 0.00531
NM_003331.5(TYK2):c.-317G>A rs17000728 0.00529
NM_003331.5(TYK2):c.-316G>A rs2304258 0.00500
NM_003331.5(TYK2):c.114C>A (p.Gly38=) rs56295652 0.00377
NM_003331.5(TYK2):c.3330G>A (p.Glu1110=) rs114073289 0.00353
NM_003331.5(TYK2):c.*146T>A rs145861532 0.00267
NM_003331.5(TYK2):c.3201-8C>T rs2304252 0.00259
NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp) rs55882956 0.00244
NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly) rs55886939 0.00226
NM_003331.5(TYK2):c.2716-4C>G rs56334302 0.00046
NM_003331.5(TYK2):c.*19C>T rs56172150 0.00025
NM_003331.5(TYK2):c.1774-4G>C rs280518

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