ClinVar Miner

List of variants reported as uncertain significance for PGM1-CDG by Invitae

Included ClinVar conditions (1):
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Total variants: 11
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NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808

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