ClinVar Miner

List of variants studied for adrenal gland neoplasm by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His) rs771507094 0.00004
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.994-1G>A rs587782272
NM_001370259.2(MEN1):c.-23-28_783+50del
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_003001.5(SDHC):c.371_372del (p.Leu124fs)
NM_003001.5(SDHC):c.49del (p.His17fs)
NM_004366.6(CLCN2):c.1856-6G>A
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp) rs1022275292

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