ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.1412G>C (p.Gly471Ala) rs776202922 0.00010
NM_181078.3(IL21R):c.1442C>T (p.Pro481Leu) rs141625630 0.00008
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) rs761950657 0.00007
NM_181078.3(IL21R):c.1537G>A (p.Glu513Lys) rs1009136590 0.00006
NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln) rs779279193 0.00003
NM_181078.3(IL21R):c.1364A>T (p.Asp455Val) rs370088512 0.00001
NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp) rs776008613 0.00001
NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr) rs762518345 0.00001
NM_181078.3(IL21R):c.1562G>A (p.Arg521His) rs372897692 0.00001
NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser) rs757335123
NM_181078.3(IL21R):c.1360G>A (p.Ala454Thr) rs1309030719
NM_181078.3(IL21R):c.1363G>C (p.Asp455His)
NM_181078.3(IL21R):c.1415G>C (p.Gly472Ala) rs1399898216
NM_181078.3(IL21R):c.1460T>G (p.Met487Arg) rs757464564
NM_181078.3(IL21R):c.1463A>G (p.Asp488Gly)
NM_181078.3(IL21R):c.1474A>G (p.Ser492Gly) rs2087542716
NM_181078.3(IL21R):c.1487G>T (p.Gly496Val) rs780769847
NM_181078.3(IL21R):c.1489T>C (p.Ser497Pro) rs1567375303
NM_181078.3(IL21R):c.1528C>T (p.Pro510Ser)
NM_181078.3(IL21R):c.1544C>A (p.Pro515His) rs546105423
NM_181078.3(IL21R):c.1544C>T (p.Pro515Leu) rs546105423

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