ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NC_000009.11:g.104198025_104198100del
NM_000035.4(ALDOB):c.*516T>A
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1G>A
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.146del (p.Val49fs)
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>C
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
NM_000035.4(ALDOB):c.540+1G>C
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
NM_000035.4(ALDOB):c.683_688dup (p.Lys230_Pro231insMetLeu)
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
NM_000035.4(ALDOB):c.799+2T>A
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
NM_000035.4:c.-10_624del
NM_000035.4:c.1_624del

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