ClinVar Miner

List of variants reported as 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: 16
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HGVS dbSNP
NM_000035.4(ALDOB):c.-214G>A rs185972191
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del) rs387906226
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)

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