ClinVar Miner

List of variants studied for adrenal gland neoplasm by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002028.4(FNTB):c.209+1976G>T rs201052112 0.00047
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) rs1055457298 0.00001
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_002382.5(MAX):c.172-6278_172-6277del

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