ClinVar Miner

List of variants in gene MLC1 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00003
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.321+2T>G rs762436724 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.423+2dup rs1555967668 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs) rs757250956 0.00001
NM_015166.4(MLC1):c.772-2del rs2518488795 0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NC_000022.10:g.(?_50512635)_(50512771_?)del
NC_000022.10:g.(?_50521503)_(50521612_?)del
NM_015166.3(MLC1):c.-195T>C
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
NM_015166.4(MLC1):c.1059+1G>T rs1555963392
NM_015166.4(MLC1):c.1060-2A>G rs2518434727
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.177+1del rs2518369951
NM_015166.4(MLC1):c.268-2A>G rs2518338237
NM_015166.4(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.4(MLC1):c.275C>T (p.Pro92Leu) rs2146908500
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.321+1G>T rs765879182
NM_015166.4(MLC1):c.321+2T>C rs762436724
NM_015166.4(MLC1):c.322-1G>T rs2518334579
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.340_341del (p.Leu114fs) rs2518334330
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter) rs1458824689
NM_015166.4(MLC1):c.346_349del (p.Val116fs) rs2518334179
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter) rs2062078281
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter) rs2518333804
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter) rs2062077684
NM_015166.4(MLC1):c.3G>A (p.Met1Ile) rs1223992285
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter) rs2062076867
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.424-1G>A
NM_015166.4(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.489dup (p.Ala164fs) rs2518317355
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter) rs766461175
NM_015166.4(MLC1):c.521_524del (p.Lys174fs) rs2518317021
NM_015166.4(MLC1):c.525+2T>C rs2518316990
NM_015166.4(MLC1):c.526-2A>G rs2518313444
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter) rs761502278
NM_015166.4(MLC1):c.592del (p.Tyr198fs) rs2061993910
NM_015166.4(MLC1):c.594_597+2delinsTTCGGC
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter) rs774184754
NM_015166.4(MLC1):c.597+1G>A rs1569248367
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.597+2T>C
NM_015166.4(MLC1):c.597_597+1del rs2518312698
NM_015166.4(MLC1):c.604G>A (p.Glu202Lys)
NM_015166.4(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.635G>A (p.Gly212Glu) rs766231298
NM_015166.4(MLC1):c.639dup (p.Ile214fs) rs1449444164
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer) rs2518295645
NM_015166.4(MLC1):c.714+2T>C rs1602022675
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg) rs281875315
NM_015166.4(MLC1):c.752_753del (p.Glu251fs) rs2518502222
NM_015166.4(MLC1):c.759del (p.Ser254fs) rs981411860
NM_015166.4(MLC1):c.791dup (p.Ser265fs) rs2518488607
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) rs777790290
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg) rs780903222
NM_015166.4(MLC1):c.823G>A (p.Ala275Thr) rs2061767463
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter) rs121908341
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.4(MLC1):c.848del (p.Ile283fs) rs2518488096
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer) rs2518488079
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter) rs2518487678
NM_015166.4(MLC1):c.894+1G>A rs1216099725
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.895-2_898delinsCTTCTG
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.4(MLC1):c.909GCT[5] (p.Leu309_Leu310del)
NM_015166.4(MLC1):c.93del (p.Asp31fs) rs2518370885
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061
NM_015166.4(MLC1):c.949_952del (p.Gly317fs) rs2518460852
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.