ClinVar Miner

List of variants in gene MLC1 reported as pathogenic by Invitae

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 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.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.(?_50500002)_(50523373_?)del
NC_000022.10:g.(?_50500012)_(50515951_?)del
NC_000022.10:g.(?_50518954)_(50523273_?)del
NC_000022.10:g.(?_50523145)_(50523373_?)del
NM_015166.4(MLC1):c.119C>A (p.Ser40Ter) rs2033708755
NM_015166.4(MLC1):c.135del (p.Cys46fs)
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.163del (p.Ser55fs)
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.335del (p.Gln112fs) rs2146905135
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs) rs2062079566
NM_015166.4(MLC1):c.345dup (p.Val116fs)
NM_015166.4(MLC1):c.359C>T (p.Ala120Val)
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.423+2T>G
NM_015166.4(MLC1):c.481_524del (p.Ile161fs)
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) rs781004589
NM_015166.4(MLC1):c.705_712delCCTAGTGG (p.Val237fs) rs2146858081
NM_015166.4(MLC1):c.735del (p.Ser246fs)
NM_015166.4(MLC1):c.736del (p.Ser246fs) rs2146830385
NM_015166.4(MLC1):c.822del (p.Ala275fs)
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.850_851del (p.Met284fs)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.912_935del (p.Leu307_Leu314del)

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