ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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.128T>A (p.Ile43Asn) rs781030435 0.00006
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00004
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054

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