ClinVar Miner

List of variants in gene TRMU reported by Baylor Genetics

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569 0.00002
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter) rs759790041 0.00002
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) rs756794418 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018006.5(TRMU):c.83-2A>G rs747853875 0.00001
NM_018006.5(TRMU):c.1019-2_1023del
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1101+1G>A
NM_018006.5(TRMU):c.1102-22_1130del
NM_018006.5(TRMU):c.1103_1109del
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)
NM_018006.5(TRMU):c.248+1G>T
NM_018006.5(TRMU):c.249-2A>C
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
NM_018006.5(TRMU):c.289C>T (p.Pro97Ser) rs886042713
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.355+1G>C rs1407825579
NM_018006.5(TRMU):c.355+1G>T
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.356-2del
NM_018006.5(TRMU):c.380dup (p.His127fs)
NM_018006.5(TRMU):c.397del (p.Leu133fs)
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs) rs2147054656
NM_018006.5(TRMU):c.458del (p.Asn153fs)
NM_018006.5(TRMU):c.478+1G>A rs1569072157
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
NM_018006.5(TRMU):c.575dup (p.Leu195fs)
NM_018006.5(TRMU):c.581del (p.Gly194fs) rs763926467
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
NM_018006.5(TRMU):c.591del (p.Glu198fs)
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.660dup (p.Met221fs)
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter) rs1800386420
NM_018006.5(TRMU):c.706-2A>G
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)
NM_018006.5(TRMU):c.772+2T>G rs2147096093
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs) rs1191230933
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)
NM_018006.5(TRMU):c.872_873del (p.Val291fs)
NM_018006.5(TRMU):c.873+2T>G
NM_018006.5(TRMU):c.874-1G>C
NM_018006.5(TRMU):c.874-2A>G
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
NM_018006.5(TRMU):c.925del (p.Arg309fs)
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242

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