ClinVar Miner

List of variants studied for embryonal neoplasm by Mendelics

Included ClinVar conditions (59):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00123
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00029
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_004304.5(ALK):c.4407G>A (p.Pro1469=) rs372471601 0.00017
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_004304.5(ALK):c.3363T>A (p.Gly1121=) rs201767904 0.00004
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met) rs150737970 0.00001
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val) rs746602808 0.00001
NM_024426.6(WT1):c.662G>A (p.Gly221Asp) rs369444006 0.00001
NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr) rs1230762716
NM_001365951.3(KIF1B):c.363+9C>A rs1569599409
NM_003072.5(SMARCA4):c.-32+34C>T rs1351249230
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp) rs2088712889
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly) rs201128299
NM_004484.4(GPC3):c.338-5del rs370737647
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) rs763551837
NM_024426.6(WT1):c.29C>A (p.Ala10Asp) rs997104313
NM_024426.6(WT1):c.314C>A (p.Ala105Glu) rs948061247
NM_024426.6(WT1):c.471C>A (p.His157Gln) rs753238865
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) rs1565001278
NM_024426.6(WT1):c.562C>T (p.Pro188Ser) rs1565001232
NM_024426.6(WT1):c.610G>T (p.Ala204Ser) rs9332973
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578

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