ClinVar Miner

List of variants in gene combination LOC125446261, MLC1 reported as uncertain significance for leukoencephalopathy, megalencephalic

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
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.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.256G>C (p.Ala86Pro) rs2062186870
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)

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