ClinVar Miner

List of variants in gene IL21R reported as benign for Cryptosporidiosis-chronic cholangitis-liver disease syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.785+16G>C rs963154 0.35683
NM_181078.3(IL21R):c.531A>G (p.Ser177=) rs3093369 0.01155
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_181078.3(IL21R):c.954C>G (p.Ser318Arg) rs3093385 0.00454
NM_181078.3(IL21R):c.153-19G>A rs3093342 0.00198
NM_181078.3(IL21R):c.360G>A (p.Pro120=) rs141558701 0.00122
NM_181078.3(IL21R):c.1584G>A (p.Pro528=) rs370397954 0.00001

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