ClinVar Miner

List of variants studied for Cystic leukoencephalopathy without megalencephaly by Illumina Laboratory Services, Illumina

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003730.6(RNASET2):c.-227G>T rs1044059 0.57840
NM_003730.6(RNASET2):c.-322T>C rs2247325 0.49332
NM_003730.6(RNASET2):c.516T>C (p.Leu172=) rs13213697 0.21386
NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp) rs11159 0.08102
NM_003730.6(RNASET2):c.21C>T (p.Arg7=) rs12193095 0.05758
NM_003730.6(RNASET2):c.147+3G>A rs78446649 0.02990
NM_003730.6(RNASET2):c.16C>T (p.Leu6=) rs11557915 0.02984
NM_003730.6(RNASET2):c.-321G>T rs182515066 0.02181
NM_003730.6(RNASET2):c.426C>T (p.Tyr142=) rs34346305 0.01184
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.214A>G (p.Ser72Gly) rs115956642 0.00200
NM_003730.6(RNASET2):c.707G>A (p.Arg236Gln) rs146590748 0.00094
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.741C>A (p.Phe247Leu) rs140357917 0.00030
NM_003730.6(RNASET2):c.696C>T (p.Ala232=) rs537280779 0.00025
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_003730.4(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.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.224G>A (p.Cys75Tyr) rs886061240
NM_003730.6(RNASET2):c.22G>A (p.Gly8Arg) rs911168436
NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser) rs780445402
NM_003730.6(RNASET2):c.567G>A (p.Gln189=) rs1191342507
NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys) rs41269593
NM_003730.6(RNASET2):c.648G>A (p.Pro216=) rs35517174
NM_003730.6(RNASET2):c.648G>C (p.Pro216=) rs35517174

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