ClinVar Miner

List of variants reported as likely benign for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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Total variants: 28
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HGVS dbSNP
NM_000255.4(MMUT):c.*101G>A rs113025987
NM_000255.4(MMUT):c.*34A>G
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) rs1454849970
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1650T>C (p.Ala550=) rs1356683206
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.1957-9A>T rs550694604
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830
NM_000255.4(MMUT):c.2250A>T (p.Val750=) rs774736275
NM_000255.4(MMUT):c.285A>G (p.Pro95=) rs113008304
NM_000255.4(MMUT):c.321C>T (p.Ile107=) rs570459486
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000255.4(MMUT):c.744T>C (p.Tyr248=) rs754257532
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692

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