List of variants reported as pathogenic for megalencephalic leukoencephalopathy with subcortical cysts 2A

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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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