ClinVar Miner

List of variants studied for Cystic leukoencephalopathy without megalencephaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu)	rs372273901	0.00001
NM_003730.6(RNASET2):c.204-14A>G	rs1778856869

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