ClinVar Miner

List of variants studied for central nervous system neoplasm by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.897_1260+1del
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579

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