ClinVar Miner

List of variants reported as benign for cryptosporidiosis-chronic cholangitis-liver disease syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.785+16G>C rs963154 0.35683
NM_181078.3(IL21R):c.1450G>A (p.Gly484Ser) rs3093386 0.03310
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.1545C>G (p.Pro515=) rs74016079 0.00272
NM_181078.3(IL21R):c.153-19G>A rs3093342 0.00198
NM_181078.3(IL21R):c.1032C>T (p.Asp344=) rs113148369 0.00179
NM_181078.3(IL21R):c.1467G>A (p.Thr489=) rs56002407 0.00174
NM_181078.3(IL21R):c.360G>A (p.Pro120=) rs141558701 0.00122
NM_181078.3(IL21R):c.1563C>T (p.Arg521=) rs201226812 0.00026
NM_181078.3(IL21R):c.1527C>T (p.Ser509=) rs201510909 0.00004
NM_181078.3(IL21R):c.1584G>A (p.Pro528=) rs370397954 0.00001

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