ClinVar Miner

List of variants in gene combination ALDH6A1, BBOF1 reported as benign for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005589.4(ALDH6A1):c.*142C>T rs8017248 0.98056
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_005589.4(ALDH6A1):c.*1934T>C rs10200 0.23558
NM_005589.4(ALDH6A1):c.*1157G>C rs4646866 0.23461
NM_005589.4(ALDH6A1):c.*1148C>T rs4646865 0.23441
NM_005589.4(ALDH6A1):c.*155T>C rs8204 0.17644
NM_005589.4(ALDH6A1):c.112-11G>T rs2302126 0.15764
NM_005589.4(ALDH6A1):c.*2816T>C rs1536 0.11048
NM_005589.4(ALDH6A1):c.*494A>T rs77324906 0.05972
NM_005589.4(ALDH6A1):c.*642C>T rs4646864 0.05891
NM_005589.4(ALDH6A1):c.*2994A>C rs114251476 0.03392
NM_005589.4(ALDH6A1):c.*1032C>T rs146306002 0.02550
NM_005589.4(ALDH6A1):c.*2680A>G rs10139971 0.01924
NM_005589.4(ALDH6A1):c.*2361G>A rs112689182 0.01755
NM_005589.4(ALDH6A1):c.*1623C>T rs112962625 0.01722
NM_005589.4(ALDH6A1):c.*1015C>T rs144507608 0.01721
NM_005589.4(ALDH6A1):c.*1181G>A rs150649694 0.01512
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_005589.4(ALDH6A1):c.*1006C>T rs146605362 0.00981
NM_005589.4(ALDH6A1):c.*980A>G rs148780249 0.00914
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_005589.4(ALDH6A1):c.*2298G>A rs76665287 0.00830
NM_005589.4(ALDH6A1):c.*1514A>G rs115564279 0.00652
NM_005589.4(ALDH6A1):c.*2157C>T rs116025535 0.00573
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) rs147004133 0.00477
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) rs183066442 0.00038
NM_005589.4(ALDH6A1):c.*1016G>A rs139735554
NM_005589.4(ALDH6A1):c.*403T>C rs1135885
NM_005589.4(ALDH6A1):c.*403T>G rs1135885

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