ClinVar Miner

List of variants in gene MMUT reported as pathogenic for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00003
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.330T>G (p.Tyr110Ter) rs879253826 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 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.1083+2T>A rs746085723 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter) rs1487859107 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255 0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161 0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488 0.00001
NM_000255.4(MMUT):c.1560+1G>T rs200019422 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1909G>A (p.Gly637Arg) rs781501004 0.00001
NM_000255.4(MMUT):c.1943G>A (p.Gly648Asp) rs766721811 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 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.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733 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.581C>T (p.Pro194Leu) rs1254433398 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 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.755dup (p.His252fs) rs751624492 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
NC_000006.11:g.(?_49399431)_(49403346_?)del
NC_000006.11:g.(?_49399431)_(49427219_?)del
NC_000006.11:g.(?_49399441)_(49427179_?)del
NC_000006.11:g.(?_49403159)_(49403346_?)del
NC_000006.11:g.(?_49423783)_(49427219_?)del
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1006dup (p.Met336fs)
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.103C>T (p.Gln35Ter)
NM_000255.4(MMUT):c.1046_1058del (p.Ala349fs)
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) rs886041957
NM_000255.4(MMUT):c.1070C>G (p.Ser357Ter) rs2127418623
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1141G>A (p.Gly381Arg)
NM_000255.4(MMUT):c.1147_1148del (p.Gln383fs) rs2127417955
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1218del (p.Asn407fs) rs1050465802
NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del) rs1767553642
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1274G>A (p.Trp425Ter) rs2127417899
NM_000255.4(MMUT):c.1283del (p.Ser428fs)
NM_000255.4(MMUT):c.128G>A (p.Trp43Ter)
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala) rs1297307718
NM_000255.4(MMUT):c.1328dup (p.Leu443fs) rs772609811
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1342G>T (p.Glu448Ter) rs2127417197
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1441del (p.Ser481fs) rs1767475786
NM_000255.4(MMUT):c.1444+1del rs1189219556
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.145_146insCCTGGAGCCCTGTTGGCAGCTCTAGCTTTGCAGTCGTGTAATTGGCCCAAGTCATTGTTTTTCTCGCCTCACTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Lys49delinsThrTrpSerProValGlySerSerSerPheAlaValValTer)
NM_000255.4(MMUT):c.1463dup (p.Val489fs) rs2127416851
NM_000255.4(MMUT):c.1465_1484del (p.Val489fs)
NM_000255.4(MMUT):c.1513del (p.Ile505fs) rs2127416819
NM_000255.4(MMUT):c.1514T>C (p.Ile505Thr)
NM_000255.4(MMUT):c.1540C>A (p.Gln514Lys) rs2127416800
NM_000255.4(MMUT):c.1560+1G>A
NM_000255.4(MMUT):c.1569del (p.Ser524fs) rs2127416017
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) rs796052008
NM_000255.4(MMUT):c.1645dup (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1658del (p.Val553fs) rs2127415956
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677-1G>T rs754369323
NM_000255.4(MMUT):c.1677-2A>G
NM_000255.4(MMUT):c.1679del (p.Cys560fs) rs766219320
NM_000255.4(MMUT):c.1690G>T (p.Glu564Ter) rs1391177886
NM_000255.4(MMUT):c.1708A>T (p.Lys570Ter)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter) rs1767285193
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys) rs1412463565
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.1844C>T (p.Pro615Leu) rs1554158777
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1871A>G (p.Gln624Arg) rs768521956
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs) rs1767239206
NM_000255.4(MMUT):c.1880dup (p.His627fs) rs2127414718
NM_000255.4(MMUT):c.1881T>A (p.His627Gln)
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) rs796052004
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.1891del (p.Ala631fs) rs863224898
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+1G>A
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.198del (p.Ile67fs)
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2062G>T (p.Glu688Ter)
NM_000255.4(MMUT):c.2098del (p.Met700fs) rs2127413347
NM_000255.4(MMUT):c.210_213dup (p.Leu72fs)
NM_000255.4(MMUT):c.2122C>T (p.Gln708Ter) rs1767095714
NM_000255.4(MMUT):c.2124+1G>A
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2159_2160del (p.Asn720fs) rs2127412094
NM_000255.4(MMUT):c.2193dup (p.Ala732fs)
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2194dup (p.Ala732fs) rs2127412070
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.243_255del (p.Leu81fs) rs2127420439
NM_000255.4(MMUT):c.257del (p.Pro86fs)
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.322del (p.Arg108fs) rs1413324756
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.396_414delinsAATATATAAAGCCAC (p.Gly133fs)
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.406G>T (p.Val136Phe) rs1767739165
NM_000255.4(MMUT):c.421del (p.Ala141fs) rs1767738752
NM_000255.4(MMUT):c.424A>G (p.Thr142Ala)
NM_000255.4(MMUT):c.426del (p.His143fs) rs2127420062
NM_000255.4(MMUT):c.443C>T (p.Ser148Leu) rs1300547552
NM_000255.4(MMUT):c.481G>A (p.Gly161Arg) rs2127420039
NM_000255.4(MMUT):c.494A>G (p.Asp165Gly)
NM_000255.4(MMUT):c.514del (p.Ile172fs) rs1767735337
NM_000255.4(MMUT):c.522_523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCAAAATTCTTTTT (p.Asp175delinsPhePhePhePhePhePheXaaXaaXaaXaaGlnCysGlyAspSerSerGlyIleTer)
NM_000255.4(MMUT):c.526G>T (p.Gly176Ter)
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.599T>C (p.Ile200Thr)
NM_000255.4(MMUT):c.613G>A (p.Glu205Lys)
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.626dup (p.Pro209_Lys210insTer) rs1434645720
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.656del (p.Asn219fs) rs777296241
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.683G>A (p.Arg228Gln)
NM_000255.4(MMUT):c.689C>T (p.Thr230Ile) rs879253833
NM_000255.4(MMUT):c.726del (p.Ile242fs)
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-1G>A
NM_000255.4(MMUT):c.754-1G>C rs76175991
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.785G>A (p.Ser262Asn) rs1767683356
NM_000255.4(MMUT):c.802_803del (p.Glu268fs)
NM_000255.4(MMUT):c.810_811dup (p.Ala271fs)
NM_000255.4(MMUT):c.811del (p.Ala271fs) rs764189353
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) rs796052007
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.854dup (p.Leu285fs) rs1767680613
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.893T>C (p.Ile298Thr)
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.920_923del (p.Phe307fs) rs2127418705
NM_000255.4(MMUT):c.920dup (p.Phe308fs)
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.949del (p.Met317fs)
NM_000255.4(MMUT):c.96_97insGG (p.Leu33fs)
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000255.4(MMUT):c.976A>T (p.Arg326Ter) rs1085308002
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372

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