ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Myriad Genetics, Inc.

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) rs1767739242
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.975del (p.Arg326fs)
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100

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