ClinVar Miner

List of variants studied for central nervous system neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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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 0.00006
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
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_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro) rs1932148548 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 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_000268.4(NF2):c.885+1G>A rs2066581489
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_003000.3(SDHB):c.287-2A>G rs1064794270
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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