ClinVar Miner

List of variants reported as uncertain significance for central nervous system neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00009
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.676-104G>A rs1040559021 0.00001
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro) rs1932148548 0.00001
NM_003072.5(SMARCA4):c.2439-12T>G rs1462368992 0.00001
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) rs1297047638 0.00001
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_001365951.3(KIF1B):c.2680C>T (p.Pro894Ser) rs1553167706
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile) rs1057518862
NM_003072.5(SMARCA4):c.1944-12C>A rs149763341
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile) rs1600168349
NM_003072.5(SMARCA4):c.4171-1861A>G rs771462690
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro) rs2037247946
NM_016169.4(SUFU):c.331G>C (p.Asp111His) rs1590018865

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