ClinVar Miner

List of variants in gene MMUT reported as pathogenic by GeneReviews

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000255.3(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.3(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.3(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.3(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.3(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.3(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.3(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.3(MMUT):c.2054T>G (p.Leu685Arg) rs864309739
NM_000255.3(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.3(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.3(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.3(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.3(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.3(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.3(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.3(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.3(MMUT):c.521T>C (p.Phe174Ser) rs864309733
NM_000255.3(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.3(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.3(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.3(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.3(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.3(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.3(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000255.3(MMUT):c.935G>T (p.Gly312Val) rs864309734

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