ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) rs770477104 0.00024
NM_152722.5(HEPACAM):c.139G>A (p.Val47Met) rs149730492 0.00009
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050

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