ClinVar Miner

List of variants studied for adrenal gland disease by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.756C>A (p.Phe252Leu)
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.4(GHR):c.686G>A (p.Arg229His) rs6177
NM_000318.2(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000466.2(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) rs146567534
NM_001282678.1(PEX1):c.3132T>A (p.Asn1044Lys) rs553001596
NM_017929.5(PEX26):c.409G>C (p.Val137Leu) rs142648687

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