ClinVar Miner

List of variants in gene NR3C1 reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_000176.3(NR3C1):c.1712T>C (p.Val571Ala) rs104893911
NM_000176.3(NR3C1):c.1891_1892+2del rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe) rs121909726
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912
NM_000176.3(NR3C1):c.66_68delinsAAA (p.Arg23Lys) rs2151942107

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