ClinVar Miner

List of variants reported as uncertain significance for central nervous system cancer by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu) rs149277592 0.00010
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116 0.00006
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760 0.00004
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile) rs765325777 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His) rs755987663 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu) rs370097699 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NC_000013.11:g.32396899_32396902delinsTAAG rs1566260060
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090
NM_003072.5(SMARCA4):c.1813-6_1813-4del rs1864896196
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys) rs1555751056
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys) rs1555778721
NM_003072.5(SMARCA4):c.2788C>T (p.Pro930Ser) rs1600279182
NM_003072.5(SMARCA4):c.812G>T (p.Gly271Val)
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540

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