ClinVar Miner

List of variants reported as pathogenic for nervous system cancer by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2663+1G>A rs2138359672
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.619C>T (p.Gln207Ter) rs2138107604
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_004656.4(BAP1):c.932-151G>A rs1705120040

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