List of variants in gene HEPACAM reported as pathogenic for megalencephalic leukoencephalopathy with subcortical cysts

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter)	rs752637604	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
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)	rs1947184803
NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr)	rs387907049
NM_152722.5(HEPACAM):c.631G>A (p.Asp211Asn)	rs387907051
NM_152722.5(HEPACAM):c.789G>A (p.Trp263Ter)

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