ClinVar Miner

List of variants in gene MMUT reported by GeneDx

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Gene type:
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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.-39-191A>G rs9395493 0.59185
NM_000255.4(MMUT):c.386-247C>T rs7767725 0.59047
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.911+246C>G rs6915187 0.58575
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000255.3(MMUT):c.-198A>T rs3729619 0.37031
NM_000255.4(MMUT):c.1083+57C>T rs7769646 0.37023
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1333-185A>G rs4715130 0.30091
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_000255.4(MMUT):c.912-110C>T rs9369901 0.20713
NM_000255.4(MMUT):c.1561-282_1561-281del rs57922774 0.11183
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.1084-195A>G rs12190697 0.10266
NM_000255.4(MMUT):c.1957-921C>A rs144754163 0.02626
NM_000255.4(MMUT):c.1333-278A>G rs75427872 0.02063
NM_000255.4(MMUT):c.385+65T>G rs112933822 0.01719
NM_000255.4(MMUT):c.1809-176C>T rs78100773 0.01567
NM_000255.4(MMUT):c.1957-654T>C rs150626922 0.00997
NM_000255.4(MMUT):c.1444+191G>T rs13194103 0.00948
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000255.4(MMUT):c.385+314G>A rs116403156 0.00891
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_000255.4(MMUT):c.-39-314G>T rs75982747 0.00814
NM_000255.4(MMUT):c.1561-175A>G rs187473935 0.00792
NM_000255.4(MMUT):c.-39-26T>A rs144458425 0.00764
NM_000255.4(MMUT):c.2125-218G>A rs149971230 0.00735
NM_000255.4(MMUT):c.1956+270G>A rs150151130 0.00709
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00608
NM_000255.4(MMUT):c.1677-30A>T rs113746269 0.00592
NM_000255.4(MMUT):c.1083+50A>T rs192976390 0.00586
NM_000255.4(MMUT):c.1560+14G>T rs756355886 0.00525
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.385+184G>A rs562940531 0.00460
NM_000255.4(MMUT):c.1333-290G>A rs149696295 0.00405
NM_000255.4(MMUT):c.1333-319C>T rs564581595 0.00404
NM_000255.4(MMUT):c.754-169C>A rs114882230 0.00404
NM_000255.4(MMUT):c.1444+69A>G rs183016925 0.00403
NM_000255.4(MMUT):c.1445-42G>A rs138133289 0.00384
NM_000255.4(MMUT):c.1083+20T>C rs200148994 0.00356
NM_000255.4(MMUT):c.*34A>G rs199933641 0.00345
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000255.4(MMUT):c.1084-50A>G rs141825870 0.00203
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.836A>G (p.Tyr279Cys) rs2228282 0.00058
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_000255.4(MMUT):c.1332+3A>C rs367641890 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.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
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.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 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.572C>A (p.Ala191Glu) rs760782399 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.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.1041A>G (p.Leu347=) rs1454849970 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000255.4(MMUT):c.1206T>G (p.Ala402=) rs142539215 0.00001
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) rs755553945 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) rs758674900 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 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.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000255.4(MMUT):c.*201del rs10713340
NM_000255.4(MMUT):c.*201dup rs10713340
NM_000255.4(MMUT):c.-16G>A rs781555363
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) rs886041957
NM_000255.4(MMUT):c.1084-217A>G rs186312168
NM_000255.4(MMUT):c.1112C>T (p.Ala371Val)
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1560+16_1560+17dup rs56408395
NM_000255.4(MMUT):c.1560+16dup rs56408395
NM_000255.4(MMUT):c.1560+31del rs56408395
NM_000255.4(MMUT):c.1594C>G (p.Arg532Gly) rs764985110
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) rs796052008
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.1677-53A>G rs9473557
NM_000255.4(MMUT):c.1808+164_1808+165del rs200061580
NM_000255.4(MMUT):c.1808+66C>G rs9473555
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) rs796052004
NM_000255.4(MMUT):c.1956+16G>T rs1057521406
NM_000255.4(MMUT):c.1957-1150C>T rs569391417
NM_000255.4(MMUT):c.1957-982del rs35151510
NM_000255.4(MMUT):c.1957-998dup rs35151510
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu) rs796052009
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.743A>G (p.Tyr248Cys) rs757594175
NM_000255.4(MMUT):c.754C>T (p.His252Tyr) rs796052010
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) rs796052007
NM_000255.4(MMUT):c.912-138C>T rs9395492
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002

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