ClinVar Miner

List of variants reported as pathogenic for central nervous system neoplasm by MGZ Medical Genetics Center

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)

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