ClinVar Miner

List of variants reported as uncertain significance for Ependymoma by McDonnell Genome Institute, Washington University in St. Louis

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys) rs368779259 0.00003
NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys) rs779201129 0.00001
NM_004690.4(LATS1):c.2365G>C (p.Asp789His) rs750318192 0.00001
NC_012920.1:m.11032delA rs1556423884
NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln) rs985808078
NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu) rs1555984638
NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro) rs1553604701
NM_001047160.3(NET1):c.498G>T (p.Glu166Asp) rs1554818513
NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr) rs1295653938
NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter) rs1555900957
NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu) rs1555424877
NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp) rs1553200563
NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys) rs1553733337
NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser) rs749174548
NM_001386991.1(BANP):c.692A>G (p.Asn231Ser) rs1555586650
NM_003372.7(VBP1):c.331C>A (p.Leu111Met) rs1000821034
NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser) rs1268580645
NM_003883.4(HDAC3):c.50_55+5del rs1554218152
NM_006078.5(CACNG2):c.541T>C (p.Tyr181His) rs1555892196
NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro) rs1555906972
NM_012318.3(LETM1):c.286G>A (p.Val96Met) rs753905629
NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu) rs1554845417
NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr) rs1555894069
NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp) rs1292721663
NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs) rs1554121513
NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs) rs1554525957
NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe) rs745762301
NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg) rs145456077
NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del) rs1554039146
NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val) rs1210829529
NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu) rs1554520414

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