ClinVar Miner

List of variants in gene combination IL21R, LOC130058713 reported as likely benign for Cryptosporidiosis-chronic cholangitis-liver disease syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.1433C>T (p.Ala478Val) rs201496200 0.00035
NM_181078.3(IL21R):c.1449C>T (p.Ala483=) rs3093408 0.00013
NM_181078.3(IL21R):c.1536C>T (p.Asp512=) rs144096734 0.00007
NM_181078.3(IL21R):c.1419C>T (p.Val473=) rs772729390 0.00004
NM_181078.3(IL21R):c.1416G>A (p.Gly472=) rs761504519 0.00002
NM_181078.3(IL21R):c.1434G>A (p.Ala478=) rs751495849 0.00002
NM_181078.3(IL21R):c.1557C>T (p.Tyr519=) rs765430693 0.00002
NM_181078.3(IL21R):c.1479C>T (p.Gly493=) rs147514663 0.00001
NM_181078.3(IL21R):c.1548C>A (p.Pro516=) rs1486350721 0.00001
NM_181078.3(IL21R):c.1374C>T (p.Asp458=) rs1596600677
NM_181078.3(IL21R):c.1387C>T (p.Leu463=)
NM_181078.3(IL21R):c.1431G>A (p.Glu477=)

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