ClinVar Miner

List of variants in gene HEPACAM reported as not provided for megalencephalic leukoencephalopathy with subcortical cysts

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.133G>A (p.Gly45Ser) rs751190197 0.00003
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) rs570071609 0.00001
NM_152722.5(HEPACAM):c.616C>T (p.Arg206Cys) rs551755804 0.00001
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp) rs387907055
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys) rs387907052

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