ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000255.3(MMUT):c.-39-1G>A rs879253822
NM_000255.3(MMUT):c.1084-10A>G rs777031588
NM_000255.3(MMUT):c.1084-50A>G rs141825870
NM_000255.3(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
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.1207C>T (p.Arg403Ter) rs727504020
NM_000255.3(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.3(MMUT):c.1360G>A (p.Gly454Arg) rs794727842
NM_000255.3(MMUT):c.1445-2A>G rs398123276
NM_000255.3(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.3(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.3(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.3(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.3(MMUT):c.1676+77A>C rs9381786
NM_000255.3(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.3(MMUT):c.1852_1854delCTT (p.Leu618del) rs398123277
NM_000255.3(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.3(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.3(MMUT):c.205A>G (p.Ile69Val) rs115923556
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.280G>A (p.Gly94Arg) rs727504022
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.461G>A (p.Arg154His) rs142068898
NM_000255.3(MMUT):c.55dup (p.Val19Glyfs) rs879253823
NM_000255.3(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.3(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000255.3(MMUT):c.753G>C (p.Lys251Asn) rs727504021
NM_000255.3(MMUT):c.91C>T (p.Arg31Ter) rs398123278

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