ClinVar Miner

List of variants in gene C1GALT1C1 reported as uncertain significance for Polyagglutinable erythrocyte syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser) rs755636243 0.00009
NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg) rs758199720 0.00004
NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg) rs749131756 0.00003
NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys) rs763941184 0.00002
NM_001011551.3(C1GALT1C1):c.152A>G (p.Asp51Gly) rs371463304 0.00001
NM_001011551.3(C1GALT1C1):c.317A>G (p.Lys106Arg) rs1274314052 0.00001
NM_001011551.3(C1GALT1C1):c.338T>C (p.Met113Thr)
NM_001011551.3(C1GALT1C1):c.430C>T (p.Arg144Cys)
NM_001011551.3(C1GALT1C1):c.606T>A (p.Asn202Lys)

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