ClinVar Miner

List of variants in gene MMUT studied for not provided

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Gene type:
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Total variants: 114
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HGVS dbSNP
NM_000255.4(MMUT):c.-11C>A rs483352790
NM_000255.4(MMUT):c.-13T>A rs483352784
NM_000255.4(MMUT):c.-17T>A rs483352789
NM_000255.4(MMUT):c.-34T>A rs483352796
NM_000255.4(MMUT):c.-34_-33insA rs483352797
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-37C>A rs483352794
NM_000255.4(MMUT):c.-39-13T>G rs483352791
NM_000255.4(MMUT):c.-39-191A>G rs9395493
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.-39-1_-39insA rs483352792
NM_000255.4(MMUT):c.-39-3T>A rs483352799
NM_000255.4(MMUT):c.-39-3del rs483352801
NM_000255.4(MMUT):c.-39-5del rs483352800
NM_000255.4(MMUT):c.-6T>A rs483352782
NM_000255.4(MMUT):c.1002G>A (p.Glu334=) rs753801296
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) rs886041957
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly) rs1442661766
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter)
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-185A>G rs4715130
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) rs1022821298
NM_000255.4(MMUT):c.1360G>A (p.Gly454Arg) rs794727842
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) rs755553945
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1444+1del
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1539G>A (p.Arg513=) rs201483594
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.4(MMUT):c.15G>A (p.Lys5=) rs483352779
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) rs796052008
NM_000255.4(MMUT):c.165C>A (p.Asn55Lys) rs483352780
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser) rs573727541
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) rs796052004
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428
NM_000255.4(MMUT):c.1936del (p.Asp646fs) rs1561952070
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) rs758674900
NM_000255.4(MMUT):c.1992G>C (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile) rs1561959708
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.330T>C (p.Tyr110=) rs879253826
NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) rs796052009
NM_000255.4(MMUT):c.385+14G>A rs199992904
NM_000255.4(MMUT):c.385+18_385+19insT rs483352803
NM_000255.4(MMUT):c.385+29del rs483352787
NM_000255.4(MMUT):c.385+30A>C rs483352785
NM_000255.4(MMUT):c.385+31del rs483352788
NM_000255.4(MMUT):c.385+33A>C rs483352786
NM_000255.4(MMUT):c.385+34_385+35insC rs483352798
NM_000255.4(MMUT):c.385+43del rs483352802
NM_000255.4(MMUT):c.385+46del rs483352793
NM_000255.4(MMUT):c.385+9T>C rs483352783
NM_000255.4(MMUT):c.386-247C>T rs7767725
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768
NM_000255.4(MMUT):c.446A>T (p.Asp149Val) rs1194327802
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.507T>C (p.Asp169=) rs1581835057
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.651C>A (p.Ile217=) rs1581834838
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.743A>G (p.Tyr248Cys) rs757594175
NM_000255.4(MMUT):c.753G>C (p.Lys251Asn) rs727504021
NM_000255.4(MMUT):c.754-4G>T rs1470433645
NM_000255.4(MMUT):c.754C>T (p.His252Tyr) rs796052010
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307
NM_000255.4(MMUT):c.7del (p.Arg3fs) rs483352781
NM_000255.4(MMUT):c.833C>T (p.Ala278Val) rs1561958387
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) rs796052007
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000255.4(MMUT):c.911+246C>G rs6915187
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002

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