ClinVar Miner

List of variants reported as uncertain significance for primary adrenal insufficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000475.5(NR0B1):c.764G>T (p.Cys255Phe) rs1001710892 0.00001
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1478A>G (p.Gln493Arg)
NM_000500.9(CYP21A2):c.60G>C (p.Trp20Cys)
NM_000500.9(CYP21A2):c.803C>G (p.Pro268Arg)
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) rs1776217797
NM_000529.2(MC2R):c.107T>A (p.Ile36Asn)
NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)
NM_178817.4(MRAP):c.-151+125C>T

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