ClinVar Miner

List of variants in gene MMAA reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_172250.3(MMAA):c.*1952T>C rs79927727
NM_172250.3(MMAA):c.*2364A>G rs13129907
NM_172250.3(MMAA):c.*3254A>C rs539831571
NM_172250.3(MMAA):c.*3285G>A rs142885287
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
NM_172250.3(MMAA):c.1146C>T (p.His382=)
NM_172250.3(MMAA):c.1179A>G (p.Glu393=) rs1578888894
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
NM_172250.3(MMAA):c.222C>T (p.His74=) rs1578877626
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
NM_172250.3(MMAA):c.258G>A (p.Val86=)
NM_172250.3(MMAA):c.336C>T (p.His112=)
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
NM_172250.3(MMAA):c.363G>C (p.Val121=)
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
NM_172250.3(MMAA):c.378A>G (p.Val126=)
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.440-5C>T rs759611574
NM_172250.3(MMAA):c.440-6C>T
NM_172250.3(MMAA):c.440-7A>C
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.734-8A>G rs778057240
NM_172250.3(MMAA):c.734-9C>A
NM_172250.3(MMAA):c.734-9C>T
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
NM_172250.3(MMAA):c.771T>C (p.Val257=)
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
NM_172250.3(MMAA):c.795A>C (p.Pro265=) rs767934772
NM_172250.3(MMAA):c.819+10T>A
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.969+10C>T
NM_172250.3(MMAA):c.970-5G>A rs370814663
NM_172250.3(MMAA):c.970-6C>T rs774402841
NM_172250.3(MMAA):c.972A>G (p.Val324=)

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