ClinVar Miner

List of variants reported as uncertain significance for Cystic leukoencephalopathy without megalencephaly

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003730.4(RNASET2):c.-396T>C rs548420673 0.00361
NM_003730.6(RNASET2):c.-392G>C rs536539036 0.00224
NM_003730.6(RNASET2):c.-203G>A rs567484544 0.00050
NM_003730.6(RNASET2):c.207C>T (p.Pro69=) rs184572250 0.00042
NM_003730.6(RNASET2):c.-104G>T rs886061245 0.00015
NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys) rs202105909 0.00011
NM_003730.6(RNASET2):c.568-4T>C rs370545130 0.00008
NM_003730.6(RNASET2):c.-155C>T rs1030764462 0.00007
NM_003730.6(RNASET2):c.380C>T (p.Ala127Val) rs117003826 0.00006
NM_003730.6(RNASET2):c.-72C>G rs1395969847 0.00005
NM_003730.6(RNASET2):c.660G>A (p.Pro220=) rs74546166 0.00004
NM_003730.6(RNASET2):c.-14C>A rs886061242 0.00003
NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg) rs199823417 0.00003
NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser) rs759625896 0.00003
NM_003730.4(RNASET2):c.-384G>A rs886061249 0.00001
NM_003730.6(RNASET2):c.-114G>C rs886061246 0.00001
NM_003730.6(RNASET2):c.-176C>T rs886061247 0.00001
NM_003730.6(RNASET2):c.-69C>T rs1350996201 0.00001
NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu) rs372273901 0.00001
NM_003730.6(RNASET2):c.360C>A (p.Thr120=) rs750265990 0.00001
NM_003730.6(RNASET2):c.534G>A (p.Val178=) rs763011032 0.00001
NM_003730.6(RNASET2):c.563G>T (p.Ser188Ile) rs759190975 0.00001
NM_003730.6(RNASET2):c.-183del rs886061248
NM_003730.6(RNASET2):c.-221G>A rs1779168220
NM_003730.6(RNASET2):c.-251G>C rs373504059
NM_003730.6(RNASET2):c.-32A>G rs886061243
NM_003730.6(RNASET2):c.-3_6del (p.Met1_Arg2del) rs886061241
NM_003730.6(RNASET2):c.-77del rs886061244
NM_003730.6(RNASET2):c.204-14A>G rs1778856869
NM_003730.6(RNASET2):c.224G>A (p.Cys75Tyr) rs886061240
NM_003730.6(RNASET2):c.22G>A (p.Gly8Arg) rs911168436
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) rs1434250650
NM_003730.6(RNASET2):c.261+3A>G rs1261086042
NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser) rs780445402
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del) rs781239107
NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu) rs1447243603
NM_003730.6(RNASET2):c.567G>A (p.Gln189=) rs1191342507
NM_003730.6(RNASET2):c.648G>C (p.Pro216=) rs35517174

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