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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HGVS dbSNP
NM_000255.3(MMUT):c.1038_1040delTCT (p.Leu347del) rs765373403
NM_000255.3(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.3(MMUT):c.1852_1854delCTT (p.Leu618del) rs398123277
NM_000255.3(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.3(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.3(MMUT):c.890C>T (p.Thr297Ile) rs547709692

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