ClinVar Miner

List of variants reported as pathogenic for Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_17345366)_(17345463_?)del
NC_000001.10:g.(?_17345366)_(17380524_?)del
NC_000001.10:g.(?_17345370)_(17359646_?)del
NC_000001.10:g.(?_17345376)_(17397986_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)del
NC_000001.10:g.(?_17359549)_(17359646_?)del
NC_000001.10:g.(?_17371246)_(17371393_?)del
NC_000001.10:g.(?_17371256)_(17371383_?)del
NC_000001.10:g.(?_17380433)_(17380524_?)del
NC_000001.10:g.(?_17380437)_(17380520_?)del
NM_003000.2(SDHB):c.-151_*159del
NM_003000.2(SDHB):c.112del (p.Arg38fs) rs398123690
NM_003000.2(SDHB):c.126del (p.Phe42fs) rs878854572
NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.141G>A (p.Trp47Ter) rs1060503762
NM_003000.2(SDHB):c.143_144dup (p.Pro49fs)
NM_003000.2(SDHB):c.148_151dup (p.Lys51fs)
NM_003000.2(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.2(SDHB):c.200+5G>C rs1553178726
NM_003000.2(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) rs876658713
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs) rs1060503751
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) rs786203506
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.399dup (p.Tyr134fs) rs1557741425
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter) rs1060503763
NM_003000.2(SDHB):c.491del (p.Gln164fs) rs1553177678
NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) rs1060503753
NM_003000.2(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) rs397516836
NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) rs1060503759
NM_003000.2(SDHB):c.607_616del (p.Gly203fs) rs587782617
NM_003000.2(SDHB):c.608del (p.Gly203fs) rs1553177436
NM_003000.2(SDHB):c.609_622dup (p.Gly208fs)
NM_003000.2(SDHB):c.620_621del (p.Leu207fs) rs1060503752
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.653G>A (p.Trp218Ter)
NM_003000.2(SDHB):c.656_707dup (p.Pro237_Phe238insAspTer)
NM_003000.2(SDHB):c.683_684delAG rs762812025
NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) rs1209914140
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.70C>T (p.Gln24Ter)
NM_003000.2(SDHB):c.717dup (p.Leu240fs) rs1060503764
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003000.3(SDHB):c.63dup (p.Cys22fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.