ClinVar Miner

List of variants reported as uncertain significance for ALG12-CDG by Invitae

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NC_000022.11:g.(?_49903818)_(49907964_?)del
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466
NM_024105.4(ALG12):c.469+4C>T rs555319649
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291

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