ClinVar Miner

List of variants reported as uncertain significance for Transcobalamin II deficiency by Invitae

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Total variants: 20
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HGVS dbSNP
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val)
NM_000355.4(TCN2):c.109C>T (p.His37Tyr)
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) rs773473997
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) rs201701227
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) rs752901101
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) rs781309237
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
NM_000355.4(TCN2):c.65-6T>A
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr)
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile) rs147738100
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026
NM_000355.4(TCN2):c.843A>T (p.Gly281=)

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