ClinVar Miner

List of variants reported as benign for Trichohepatoenteric syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) rs410851 0.79487
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_006929.5(SKIC2):c.2659G>A (p.Asp887Asn) rs3911893 0.05545
NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) rs2734331 0.03599
NM_006929.5(SKIC2):c.1041C>T (p.Ala347=) rs35664695 0.02347
NM_006929.5(SKIC2):c.2749G>A (p.Val917Met) rs106287 0.02102
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_006929.5(SKIC2):c.279C>G (p.Val93=) rs11541400 0.00655
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00350
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=) rs2280773 0.00198
NM_006929.5(SKIC2):c.*19T>C rs2075702 0.00094
NM_006929.5(SKIC2):c.384T>C (p.Ala128=) rs3895064 0.00093
NM_006929.5(SKIC2):c.741C>G (p.Cys247Trp) rs149410050 0.00093
NM_006929.5(SKIC2):c.23-14A>T rs145129911 0.00092
NM_006929.5(SKIC2):c.774A>G (p.Glu258=) rs143738551 0.00045
NM_006929.5(SKIC2):c.3070-7T>C rs201101301 0.00011
NM_006929.5(SKIC2):c.2052C>T (p.His684=) rs61761946

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