ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as likely benign for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.203-46C>T rs6452 0.01305
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000500.9(CYP21A2):c.292+56T>G rs543633765 0.00139
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_000500.9(CYP21A2):c.292+37T>A rs184177366 0.00058
NM_000500.9(CYP21A2):c.292+45_292+46insTGT rs1422458709
NM_000500.9(CYP21A2):c.293-136C>T rs1582301685

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