ClinVar Miner

List of variants studied for Vitamin B12-responsive methylmalonic acidemia type cblA by Invitae

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Total variants: 87
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HGVS dbSNP
NC_000004.12:g.(?_145639120)_(145642505_?)del
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.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
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.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
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.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
NM_172250.3(MMAA):c.336C>T (p.His112=)
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
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.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
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.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.562+4A>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.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
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.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.733+1G>A rs779939886
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.742C>T (p.Gln248Ter) rs757548934
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
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.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.819+10T>A
NM_172250.3(MMAA):c.820-1G>C
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
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.940C>T (p.Arg314Cys)
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
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=)
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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