ClinVar Miner

List of variants reported as uncertain significance for Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_130384.3(ATRIP):c.*655G>C rs577465983 0.00222
NM_130384.3(ATRIP):c.*583A>G rs767364235 0.00017
NM_130384.3(ATRIP):c.*495C>T rs377157141 0.00006
NM_130384.3(ATRIP):c.*682C>T rs886058623 0.00002
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) rs2040380664
NM_130384.3(ATRIP):c.*576G>T rs886058622
NM_130384.3(ATRIP):c.*732CTGC[4] rs371036312

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