ClinVar Miner

List of variants in gene MMAA reported as uncertain significance for Methylmalonic aciduria cblA type

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Total variants: 14
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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.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)

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