ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Endocrinology Clinic, Seth G.S. Medical College

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_003000.2(SDHB):c.131_139delTCTATCGAT (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003002.3(SDHD):c.386delT rs864321644

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