ClinVar Miner

List of variants in gene MMUT reported as pathogenic by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

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Total variants: 6
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NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692

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