ClinVar Miner

List of variants studied for endocrine gland neoplasm by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) rs376497260 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_000038.6(APC):c.1380del (p.Glu461fs)
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) rs1554083132
NM_000038.6(APC):c.2206A>T (p.Lys736Ter)
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.406G>T (p.Glu136Ter)
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000388.4(CASR):c.2938del (p.Asp980fs)
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
NM_000516.7(GNAS):c.433-2A>C
NM_000551.4(VHL):c.314del (p.Thr105fs)
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) rs863224807
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.620_621del (p.Leu207fs) rs1060503752
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.765+1G>A rs2101513511
NM_003002.4(SDHD):c.113_122del (p.Arg38fs)
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) rs1791543423
NM_017849.4(TMEM127):c.193del (p.Glu65fs)
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
NM_024529.5(CDC73):c.127dup (p.Trp43fs)

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.