ClinVar Miner

List of variants in gene MLC1 reported as uncertain significance for not provided

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp) rs148532625 0.00034
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00016
NM_015166.4(MLC1):c.64C>T (p.Arg22Trp) rs202135704 0.00013
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.93C>T (p.Asp31=) rs199625892 0.00009
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00003
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015166.4(MLC1):c.595T>C (p.Ser199Pro) rs140676811 0.00003
NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys) rs373419167 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 0.00001
NM_015166.4(MLC1):c.476C>T (p.Thr159Met) rs777239986 0.00001
NC_000022.10:g.(?_50512625)_(50523373_?)dup
NC_000022.10:g.(?_50515250)_(50515951_?)del
NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)
NM_015166.4(MLC1):c.1046G>A (p.Arg349His)
NM_015166.4(MLC1):c.1052_1053insGGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
NM_015166.4(MLC1):c.1059+12_1059+13insGCTGGGGAGGTGAGTGGCCTGTGGGGTGGGGGT
NM_015166.4(MLC1):c.106G>A (p.Asp36Asn)
NM_015166.4(MLC1):c.1112T>G (p.Val371Gly)
NM_015166.4(MLC1):c.1117G>A (p.Val373Met)
NM_015166.4(MLC1):c.152C>T (p.Thr51Met) rs1291047256
NM_015166.4(MLC1):c.167T>C (p.Val56Ala)
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015166.4(MLC1):c.343T>C (p.Phe115Leu) rs2146905010
NM_015166.4(MLC1):c.367A>G (p.Thr123Ala)
NM_015166.4(MLC1):c.396A>T (p.Lys132Asn)
NM_015166.4(MLC1):c.40C>G (p.Arg14Gly)
NM_015166.4(MLC1):c.40C>T (p.Arg14Trp) rs370132302
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln) rs1362564136
NM_015166.4(MLC1):c.424-19C>G rs372675474
NM_015166.4(MLC1):c.470C>T (p.Ala157Val)
NM_015166.4(MLC1):c.487G>A (p.Ala163Thr)
NM_015166.4(MLC1):c.502G>A (p.Glu168Lys)
NM_015166.4(MLC1):c.504GGA[1] (p.Glu169del) rs2062012038
NM_015166.4(MLC1):c.50C>T (p.Thr17Met)
NM_015166.4(MLC1):c.536C>G (p.Ser179Cys)
NM_015166.4(MLC1):c.563T>C (p.Val188Ala)
NM_015166.4(MLC1):c.577C>T (p.Arg193Trp)
NM_015166.4(MLC1):c.578G>A (p.Arg193Gln)
NM_015166.4(MLC1):c.613G>A (p.Ala205Thr)
NM_015166.4(MLC1):c.667G>A (p.Val223Ile)
NM_015166.4(MLC1):c.686C>T (p.Ser229Leu)
NM_015166.4(MLC1):c.692C>G (p.Thr231Arg)
NM_015166.4(MLC1):c.730A>G (p.Ile244Val)
NM_015166.4(MLC1):c.734C>G (p.Ala245Gly)
NM_015166.4(MLC1):c.771+5G>A
NM_015166.4(MLC1):c.778G>A (p.Val260Ile)
NM_015166.4(MLC1):c.799C>G (p.Leu267Val)
NM_015166.4(MLC1):c.803C>T (p.Thr268Met)
NM_015166.4(MLC1):c.814C>A (p.Leu272Met) rs2146811944
NM_015166.4(MLC1):c.838T>C (p.Ser280Pro)
NM_015166.4(MLC1):c.847A>G (p.Ile283Val)
NM_015166.4(MLC1):c.890T>G (p.Ile297Arg) rs2146811164
NM_015166.4(MLC1):c.902A>G (p.Tyr301Cys)
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[6] (p.Leu310del)
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[9] (p.Leu309_Leu310dup) rs761096481
NM_015166.4(MLC1):c.917T>G (p.Leu306Arg)
NM_015166.4(MLC1):c.949G>A (p.Gly317Ser)
NM_015166.4(MLC1):c.94G>A (p.Ala32Thr)
NM_015166.4(MLC1):c.94G>C (p.Ala32Pro) rs193115579
NM_015166.4(MLC1):c.950G>A (p.Gly317Asp) rs1397825083
NM_015166.4(MLC1):c.959C>T (p.Thr320Met)

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