ClinVar Miner

List of variants in gene MMUT reported as likely pathogenic

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Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 0.00005
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.545T>G (p.Met182Arg) rs763208217 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333 0.00001
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu) rs1254433398 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) rs750583669 0.00001
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000255.4(MMUT):c.-39-2A>G rs1767786464
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1083+1G>T
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1102del (p.Val368fs) rs1767558588
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) rs1767558268
NM_000255.4(MMUT):c.1108A>G (p.Thr370Ala)
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1279G>A (p.Gly427Ser)
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala) rs1297307718
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) rs1767549304
NM_000255.4(MMUT):c.1332+1G>C
NM_000255.4(MMUT):c.1333-8_1333-3del
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1436dup (p.Asp480fs) rs2127417136
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+2T>C rs1767442652
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) rs1767368923
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
NM_000255.4(MMUT):c.1645del (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1664C>T (p.Ala555Val)
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) rs1289671563
NM_000255.4(MMUT):c.1675A>G (p.Arg559Gly)
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) rs1767289269
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser) rs1767285693
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1787del (p.Glu596fs) rs1767284074
NM_000255.4(MMUT):c.1792_1808+6del rs2127415155
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
NM_000255.4(MMUT):c.1809-1G>C
NM_000255.4(MMUT):c.1809-2A>T rs1767243474
NM_000255.4(MMUT):c.1847G>A (p.Arg616His) rs1369724342
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1870C>A (p.Gln624Lys)
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.1873G>A (p.Asp625Asn)
NM_000255.4(MMUT):c.1875T>A (p.Asp625Glu)
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.1897G>C (p.Val633Leu)
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.1943G>C (p.Gly648Ala)
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-899A>G rs1767133183
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.1996G>A (p.Val666Met) rs776430285
NM_000255.4(MMUT):c.2008G>C (p.Gly670Arg)
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
NM_000255.4(MMUT):c.2081G>A (p.Arg694Gln)
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)
NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)
NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.256C>A (p.Pro86Thr)
NM_000255.4(MMUT):c.257C>G (p.Pro86Arg)
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.296T>C (p.Met99Thr) rs1767770379
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.322C>G (p.Arg108Gly) rs121918257
NM_000255.4(MMUT):c.323G>T (p.Arg108Leu)
NM_000255.4(MMUT):c.360T>G (p.Asn120Lys)
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu) rs796052009
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.386-1G>A rs2127420084
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) rs1767739242
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)
NM_000255.4(MMUT):c.446A>G (p.Asp149Gly)
NM_000255.4(MMUT):c.446dup (p.Asp149fs) rs1767737608
NM_000255.4(MMUT):c.457G>A (p.Val153Ile)
NM_000255.4(MMUT):c.466G>A (p.Asp156Asn)
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000255.4(MMUT):c.571G>T (p.Ala191Ser)
NM_000255.4(MMUT):c.590C>A (p.Ala197Glu)
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter) rs1767780776
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu) rs764347583
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.688A>G (p.Thr230Ala)
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.753+3A>G
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile) rs1767683356
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.793C>T (p.His265Tyr)
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro) rs1179778233
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) rs1767678885
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.925T>G (p.Trp309Gly) rs2127418704
NM_000255.4(MMUT):c.927G>C (p.Trp309Cys)
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.970G>T (p.Ala324Ser)
NM_000255.4(MMUT):c.975del (p.Arg326fs)
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100

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