ClinVar Miner

List of variants in gene MMUT reported as pathogenic by OMIM

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Gene type:
ClinVar version:
Total variants: 14
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MUT, 1808G-A
MUT, 2-BP DEL, 769CA
MUT, IVS11, C-A, -891
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) rs121918255
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256

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