ClinVar Miner

List of variants studied for adrenal gland disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (131):
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ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) rs1309642469
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817
NM_000551.4(VHL):c.508G>C (p.Val170Leu) rs1553620326
NM_001126112.2(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_182977.3(NNT):c.98dup (p.Leu33fs) rs1579966821

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