ClinVar Miner

List of variants in gene MLC1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.321+50T>C rs79301 0.94928
NM_015166.4(MLC1):c.526-118C>T rs4838882 0.92233
NM_015166.4(MLC1):c.895-259G>A rs8142282 0.49774
NM_015166.4(MLC1):c.714+28G>A rs2038048 0.37585
NM_015166.4(MLC1):c.895-139G>A rs11568183 0.27599
NM_015166.4(MLC1):c.1059+292A>G rs4990416 0.26628
NM_015166.4(MLC1):c.525+153G>A rs6010166 0.23729
NM_015166.4(MLC1):c.*48A>G rs137919 0.23521
NM_015166.4(MLC1):c.423+108A>G rs2235349 0.21870
NM_015166.4(MLC1):c.1059+16G>A rs5771338 0.18318
NM_015166.4(MLC1):c.894+194G>A rs2076127 0.16956
NM_015166.4(MLC1):c.*45A>G rs2072873 0.14783
NM_015166.4(MLC1):c.525+22G>A rs2072874 0.14143
NM_015166.4(MLC1):c.525+64G>A rs2076137 0.14127
NM_015166.4(MLC1):c.715-184C>T rs2076136 0.13019
NM_015166.4(MLC1):c.424-264A>G rs137926 0.12676
NM_015166.4(MLC1):c.771+175T>C rs2076132 0.12250
NM_015166.4(MLC1):c.772-35C>T rs11568179 0.12195
NM_015166.4(MLC1):c.895-435del rs148078185 0.12168
NM_015166.4(MLC1):c.772-110A>G rs111258391 0.12151
NM_015166.4(MLC1):c.771+254T>G rs2076130 0.11801
NM_015166.4(MLC1):c.771+160T>C rs2076133 0.11739
NM_015166.4(MLC1):c.771+59C>A rs2076135 0.11739
NM_015166.4(MLC1):c.771+61T>C rs2076134 0.11739
NM_015166.4(MLC1):c.894+52T>C rs5771349 0.11723
NM_015166.4(MLC1):c.1060-177A>G rs75152548 0.11705
NM_015166.4(MLC1):c.894+199C>T rs5771142 0.11704
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_015166.4(MLC1):c.895-23C>T rs11568184 0.11703
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10544
NM_015166.4(MLC1):c.771+284T>A rs2076129 0.10302
NM_015166.4(MLC1):c.895-261A>G rs8136173 0.09914
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09887
NM_015166.4(MLC1):c.771+235C>T rs2076131 0.09685
NM_015166.4(MLC1):c.771+158G>A rs35480507 0.09183
NM_015166.4(MLC1):c.177+225T>C rs117090329 0.07553
NM_015166.4(MLC1):c.423+121T>G rs11568176 0.07376
NM_015166.4(MLC1):c.772-34G>A rs73893124 0.07123
NM_015166.4(MLC1):c.771+206C>T rs73893125 0.06697
NM_015166.4(MLC1):c.597+34A>G rs58496403 0.06671
NM_015166.4(MLC1):c.1059+27A>G rs114282486 0.05667
NM_015166.4(MLC1):c.772-175A>G rs113730184 0.04100
NM_015166.4(MLC1):c.-59-17T>C rs9628323 0.03393
NM_015166.4(MLC1):c.597+264C>T rs9628322 0.02505
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.949G>A (p.Gly317Ser) rs145180481 0.00009
NM_015166.4(MLC1):c.959C>T (p.Thr320Met) rs281875313 0.00003
NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys) rs373419167 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.3(MLC1):c.-195T>C
NM_015166.4(MLC1):c.1059+12_1059+13insGCTGGGGAGGTGAGTGGCCTGTGGGGTGGGGGT rs1569241858
NM_015166.4(MLC1):c.1059+162T>C rs13053139
NM_015166.4(MLC1):c.1059+178A>G rs12483792
NM_015166.4(MLC1):c.1059+248T>C rs4600768
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.597+286del rs1262682508
NM_015166.4(MLC1):c.714+131A>C rs2272832
NM_015166.4(MLC1):c.772-171del rs765426637
NM_015166.4(MLC1):c.772-174_772-171del rs765426637
NM_015166.4(MLC1):c.772-191_772-190dup rs765426637
NM_015166.4(MLC1):c.772-191dup rs765426637
NM_015166.4(MLC1):c.772-80C>G rs75474964
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061

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