ClinVar Miner

List of variants in gene MMUT reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 9
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HGVS dbSNP
NM_000255.3(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.3(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.3(MMUT):c.1360G>A (p.Gly454Arg) rs794727842
NM_000255.3(MMUT):c.1852_1854delCTT (p.Leu618del) rs398123277
NM_000255.3(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.3(MMUT):c.385+14G>A rs199992904
NM_000255.3(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.3(MMUT):c.431G>A (p.Arg144His) rs776621768
NM_000255.3(MMUT):c.753G>C (p.Lys251Asn) rs727504021

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