ClinVar Miner

List of variants in gene MMUT reported by GeneDx

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Gene type:
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Total variants: 61
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HGVS dbSNP
NC_000006.12:g.49448935G>A
NM_000255.4(MMUT):c.-16G>A rs781555363
NM_000255.4(MMUT):c.-39-191A>G
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) rs1454849970
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) rs886041957
NM_000255.4(MMUT):c.1083+20T>C rs200148994
NM_000255.4(MMUT):c.1084-10A>G rs777031588
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.1206T>G (p.Ala402=) rs142539215
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-185A>G
NM_000255.4(MMUT):c.1333-18T>G rs111667453
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) rs755553945
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
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.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1676+10T>C rs199886805
NM_000255.4(MMUT):c.1677-164A>T
NM_000255.4(MMUT):c.1808+15T>C rs369131814
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.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) rs758674900
NM_000255.4(MMUT):c.1956+16G>T rs1057521406
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266
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.2200C>T (p.Gln734Ter) rs879253852
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.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) rs796052009
NM_000255.4(MMUT):c.386-247C>T
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.423G>A (p.Ala141=) rs547142339
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
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.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
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.711A>G (p.Pro237=) rs138085432
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.911+246C>G
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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