ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.672+2T>A rs1555525703
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) rs397516438
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.463+2T>G rs5030814
NM_001166120.1(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.445_446insTATGG (p.Gln149Leufs) rs1553177688
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003001.3(SDHC):c.21-3_22delCAGAC rs1553261757
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_017849.3(TMEM127):c.308del (p.Gly103Alafs) rs727503490

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