ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) rs2060639501
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) rs1596605496
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003001.5(SDHC):c.21-3_22del rs1553261757
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_017849.4(TMEM127):c.308del (p.Gly103fs) rs727503490

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