ClinVar Miner

List of variants studied for Polyagglutinable erythrocyte syndrome by Invitae

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Total variants: 6
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NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser) rs755636243
NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys)
NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn) rs149340486
NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val) rs45557031
NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg)
NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg)

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