ClinVar Miner

List of variants reported as likely pathogenic for Cystic leukoencephalopathy without megalencephaly

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003730.6(RNASET2):c.148-1G>T	rs2128646702
NM_003730.6(RNASET2):c.195_198del (p.Gly66fs)
NM_003730.6(RNASET2):c.710dup (p.Leu238fs)	rs763295910

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