ClinVar Miner

List of variants reported as pathogenic for Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations by OMIM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs)	rs1560113283
NM_033629.6(TREX1):c.703dup (p.Val235fs)	rs1553820434

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