ClinVar Miner

List of variants in gene BAAT reported as benign for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001701.4(BAAT):c.*948C>A rs7043029 0.80525
NM_001701.4(BAAT):c.*46G>A rs2229594 0.78680
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_001701.4(BAAT):c.*1458G>A rs59311341 0.15501
NM_001701.4(BAAT):c.*589C>T rs41274983 0.15466
NM_001701.4(BAAT):c.*611G>A rs41274981 0.15464
NM_001701.4(BAAT):c.-116G>A rs117775873 0.06702
NM_001701.4(BAAT):c.*1090A>G rs76498584 0.03623
NM_001701.4(BAAT):c.*1998T>C rs10123365 0.02163
NM_001701.4(BAAT):c.*1041A>C rs41316534 0.02125
NM_001701.4(BAAT):c.*1884G>A rs10120225 0.02003
NM_001701.4(BAAT):c.911T>C (p.Val304Ala) rs61755096 0.01872
NM_001701.4(BAAT):c.*312A>G rs41281025 0.01409
NM_001701.4(BAAT):c.*1029A>T rs74606977 0.01162
NM_001701.4(BAAT):c.350A>G (p.Lys117Arg) rs115215226 0.01157
NM_001701.4(BAAT):c.*160T>C rs139712344 0.00931
NM_001701.4(BAAT):c.*955A>G rs41301517 0.00912
NM_001701.4(BAAT):c.*895C>T rs16936057 0.00500
NM_001701.4(BAAT):c.1134C>T (p.His378=) rs118089324 0.00047
NM_001701.4(BAAT):c.*1475G>A rs10120345
NM_001701.4(BAAT):c.*1886T>C rs10123392
NM_001701.4(BAAT):c.602G>C (p.Arg201Pro) rs41281027

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