ClinVar Miner

List of variants in gene MLC1 reported as likely pathogenic

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
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.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 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.973C>T (p.Gln325Ter) rs1057516465 0.00001
NC_000022.10:g.(?_50512635)_(50512771_?)del
NC_000022.10:g.(?_50521503)_(50521612_?)del
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
NM_015166.4(MLC1):c.1059+1G>T
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
NM_015166.4(MLC1):c.268-2A>G
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
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter) rs1458824689
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter) rs2062078281
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter) rs2062077684
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter) rs2062076867
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.423+2dup rs1555967668
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)
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter) rs766461175
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
NM_015166.4(MLC1):c.526-2A>G
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter) rs761502278
NM_015166.4(MLC1):c.592del (p.Tyr198fs)
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.597_597+1del
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)
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)
NM_015166.4(MLC1):c.714+2T>C
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
NM_015166.4(MLC1):c.759del (p.Ser254fs)
NM_015166.4(MLC1):c.772-2del
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) rs777790290
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
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)
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)
NM_015166.4(MLC1):c.894+1G>A
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313

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