List of variants reported as not provided for leukoencephalopathy, megalencephalic by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.178-10T>A	rs80358243	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.925C>A (p.Leu309Met)	rs80358240	0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs)	rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.298_423+108del	rs1555967644
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	rs764669598
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	rs2146772952
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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