ClinVar Miner

List of variants reported as likely pathogenic 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: 17
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000038.6(APC):c.2206A>T (p.Lys736Ter)
NM_000038.6(APC):c.406G>T (p.Glu136Ter)
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
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.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.38G>A (p.Gly13Asp) rs104894226
NM_017849.4(TMEM127):c.193del (p.Glu65fs)
NM_024529.5(CDC73):c.127dup (p.Trp43fs)

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