ClinVar Miner

List of variants in gene LOC125446261, MLC1 studied for megalencephalic leukoencephalopathy with subcortical cysts

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.216G>A (p.Leu72=) rs78365284 0.00499
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.222C>T (p.Asn74=) rs759148867 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) rs1289520784 0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His) rs1425784992 0.00001
NM_015166.4(MLC1):c.178-2A>G
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_015166.4(MLC1):c.198G>A (p.Ser66=) rs199991229
NM_015166.4(MLC1):c.218G>A (p.Gly73Glu) rs1602063709
NM_015166.4(MLC1):c.223del (p.Val75fs) rs794729233
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp) rs2146932748
NM_015166.4(MLC1):c.256G>C (p.Ala86Pro) rs2062186870
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)

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