ClinVar Miner

List of variants in gene MMUT reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.*278A>G rs182726681 0.00484
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000255.4(MMUT):c.*627C>T rs534290000 0.00272
NM_000255.4(MMUT):c.*126A>G rs192605776 0.00255
NM_000255.4(MMUT):c.*558A>G rs111322712 0.00254
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000255.4(MMUT):c.*257A>C rs187747098 0.00235
NM_000255.4(MMUT):c.-78C>A rs553218776 0.00178
NM_000255.4(MMUT):c.-79G>A rs184509406 0.00178
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018 0.00079
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282 0.00058
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000255.4(MMUT):c.-135G>T rs778890521 0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.2196C>T (p.Ala732=) rs201963242 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000255.4(MMUT):c.*466G>A rs538293537 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035 0.00028
NM_000255.4(MMUT):c.*1044T>A rs779436906 0.00026
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) rs150095448 0.00024
NM_000255.4(MMUT):c.*986G>A rs886061552 0.00023
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901 0.00014
NM_000255.4(MMUT):c.*465C>T rs886061555 0.00013
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965 0.00010
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000255.4(MMUT):c.*1184T>C rs745494100 0.00009
NM_000255.4(MMUT):c.*1252T>C rs781039564 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000255.4(MMUT):c.*200A>T rs886061556 0.00008
NM_000255.4(MMUT):c.1447T>C (p.Ser483Pro) rs772705749 0.00007
NM_000255.4(MMUT):c.1594C>T (p.Arg532Cys) rs764985110 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000255.4(MMUT):c.754-18A>G rs746457518 0.00007
NM_000255.4(MMUT):c.*281G>A rs144168425 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000255.4(MMUT):c.-47G>A rs909215931 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000255.4(MMUT):c.*445A>G rs1025441665 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000255.4(MMUT):c.*1214C>A rs886061551 0.00003
NM_000255.4(MMUT):c.*691T>C rs886061554 0.00003
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00003
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) rs772104231 0.00003
NM_000255.4(MMUT):c.1031C>G (p.Ser344Cys) rs762281578 0.00002
NM_000255.4(MMUT):c.1270C>T (p.Pro424Ser) rs373381232 0.00002
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889 0.00002
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln) rs776065390 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.2123A>G (p.Gln708Arg) rs769217429 0.00002
NM_000255.4(MMUT):c.2124+4T>C rs370357524 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000255.4(MMUT):c.*103A>G rs886061558 0.00001
NM_000255.4(MMUT):c.*1319C>T rs541645779 0.00001
NM_000255.4(MMUT):c.*636T>A rs1262925761 0.00001
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly) rs1442661766 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1144A>G (p.Thr382Ala) rs1471923240 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) rs1022821298 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267 0.00001
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149 0.00001
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp) rs769270504 0.00001
NM_000255.4(MMUT):c.1659G>A (p.Val553=) rs764316430 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1733C>T (p.Ala578Val) rs759674071 0.00001
NM_000255.4(MMUT):c.1801A>G (p.Ile601Val) rs201888226 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000255.4(MMUT):c.2146G>A (p.Val716Ile) rs763572961 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.235A>G (p.Met79Val) rs751177187 0.00001
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile) rs150841850 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.53A>G (p.Gln18Arg) rs372601759 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.562A>G (p.Met188Val) rs1468970345 0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877 0.00001
NM_000255.4(MMUT):c.826G>C (p.Glu276Gln) rs766420051 0.00001
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NM_000255.4(MMUT):c.*1182T>C rs1766948465
NM_000255.4(MMUT):c.*162A>C rs886061557
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.-155del rs886061562
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1005A>T (p.Lys335Asn)
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1112C>T (p.Ala371Val)
NM_000255.4(MMUT):c.1114A>G (p.Ile372Val)
NM_000255.4(MMUT):c.1118A>G (p.Glu373Gly) rs2127417967
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1157A>C (p.His386Pro)
NM_000255.4(MMUT):c.1162A>G (p.Asn388Asp)
NM_000255.4(MMUT):c.1170T>G (p.Phe390Leu)
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1238A>G (p.Gln413Arg)
NM_000255.4(MMUT):c.1246T>G (p.Ser416Ala)
NM_000255.4(MMUT):c.1264G>A (p.Ala422Thr)
NM_000255.4(MMUT):c.1280_1281delinsTA (p.Gly427Val)
NM_000255.4(MMUT):c.1293G>A (p.Met431Ile) rs1767551077
NM_000255.4(MMUT):c.1297T>C (p.Cys433Arg)
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1330A>G (p.Lys444Glu)
NM_000255.4(MMUT):c.1360G>A (p.Gly454Arg) rs794727842
NM_000255.4(MMUT):c.1415C>G (p.Ala472Gly) rs747589392
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) rs867154364
NM_000255.4(MMUT):c.1444+6A>G
NM_000255.4(MMUT):c.1459G>T (p.Val487Phe) rs1767446389
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile) rs1767446166
NM_000255.4(MMUT):c.1478A>T (p.Gln493Leu)
NM_000255.4(MMUT):c.1480T>A (p.Leu494Met)
NM_000255.4(MMUT):c.1499T>C (p.Val500Ala) rs766908649
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln) rs759605451
NM_000255.4(MMUT):c.150G>C (p.Gln50His)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1560G>A (p.Lys520=) rs2127416791
NM_000255.4(MMUT):c.1565A>C (p.Lys522Thr)
NM_000255.4(MMUT):c.1568C>G (p.Ser523Cys)
NM_000255.4(MMUT):c.157_162del (p.Gly53_Lys54del)
NM_000255.4(MMUT):c.1615G>A (p.Glu539Lys)
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=) rs1561959894
NM_000255.4(MMUT):c.1700A>G (p.Asp567Gly) rs1448500208
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1792A>G (p.Thr598Ala)
NM_000255.4(MMUT):c.179T>C (p.Ile60Thr) rs770382069
NM_000255.4(MMUT):c.1809-6T>A rs2127414761
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser) rs756743196
NM_000255.4(MMUT):c.1814A>G (p.His605Arg)
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser) rs573727541
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1847G>A (p.Arg616His) rs1369724342
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1877G>A (p.Gly626Asp)
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.1891G>A (p.Ala631Thr)
NM_000255.4(MMUT):c.1892C>T (p.Ala631Val)
NM_000255.4(MMUT):c.1907C>T (p.Thr636Ile)
NM_000255.4(MMUT):c.1936del (p.Asp646fs) rs1561952070
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.1945C>T (p.Pro649Ser) rs1561952053
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-3T>C
NM_000255.4(MMUT):c.1993G>A (p.Asp665Asn) rs1767101872
NM_000255.4(MMUT):c.2015G>A (p.Ser672Asn)
NM_000255.4(MMUT):c.2047C>T (p.Pro683Ser) rs866763981
NM_000255.4(MMUT):c.2063A>G (p.Glu688Gly)
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2159A>G (p.Asn720Ser)
NM_000255.4(MMUT):c.2159A>T (p.Asn720Ile) rs1170712107
NM_000255.4(MMUT):c.215T>C (p.Leu72Ser)
NM_000255.4(MMUT):c.2162T>C (p.Val721Ala)
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) rs1766985866
NM_000255.4(MMUT):c.2201A>C (p.Gln734Pro) rs983998340
NM_000255.4(MMUT):c.2201A>G (p.Gln734Arg)
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly) rs2127412055
NM_000255.4(MMUT):c.2224T>G (p.Cys742Gly)
NM_000255.4(MMUT):c.2238G>C (p.Lys746Asn)
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.262G>A (p.Val88Met)
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro) rs754740382
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile) rs1561959708
NM_000255.4(MMUT):c.32T>C (p.Leu11Pro)
NM_000255.4(MMUT):c.393G>T (p.Gln131His)
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.398G>A (p.Gly133Glu)
NM_000255.4(MMUT):c.398G>T (p.Gly133Val)
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
NM_000255.4(MMUT):c.40C>T (p.His14Tyr) rs745369199
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
NM_000255.4(MMUT):c.446A>T (p.Asp149Val) rs1194327802
NM_000255.4(MMUT):c.447C>A (p.Asp149Glu)
NM_000255.4(MMUT):c.452C>T (p.Pro151Leu)
NM_000255.4(MMUT):c.455G>T (p.Arg152Leu) rs758095905
NM_000255.4(MMUT):c.509C>G (p.Thr170Ser)
NM_000255.4(MMUT):c.509C>T (p.Thr170Ile)
NM_000255.4(MMUT):c.531T>G (p.Ile177Met)
NM_000255.4(MMUT):c.572C>T (p.Ala191Val) rs760782399
NM_000255.4(MMUT):c.595T>G (p.Phe199Val) rs2127419986
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.670G>A (p.Glu224Lys) rs1554160638
NM_000255.4(MMUT):c.694A>T (p.Ile232Phe)
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.700C>T (p.Pro234Ser) rs1442489589
NM_000255.4(MMUT):c.721A>G (p.Ile241Val)
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
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.754C>T (p.His252Tyr) rs796052010
NM_000255.4(MMUT):c.800A>G (p.Gln267Arg)
NM_000255.4(MMUT):c.805G>A (p.Ala269Thr) rs2127419445
NM_000255.4(MMUT):c.833C>T (p.Ala278Val) rs1561958387
NM_000255.4(MMUT):c.846A>G (p.Ala282=) rs1184586094
NM_000255.4(MMUT):c.854T>C (p.Leu285Ser) rs1767680543
NM_000255.4(MMUT):c.876C>G (p.Leu292=) rs1767679459
NM_000255.4(MMUT):c.911+5G>A
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys) rs778221358
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.958G>A (p.Ala320Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.