ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.15_16del (p.Pro6fs) rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131
NM_172250.3(MMAA):c.970-2A>T rs1553959113

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