ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of glycosylation type 1O

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Total variants: 8
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HGVS dbSNP
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)

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