ClinVar Miner

List of variants reported as pathogenic for adrenal gland disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) rs2091765003
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) rs2091773697
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.524_526del (p.Phe175del) rs2091707872
NM_000033.4(ABCD1):c.855del (p.Val286fs)
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser) rs2148389994
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_017849.4(TMEM127):c.410-1G>C

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