ClinVar Miner

List of variants reported as likely benign for Glucocorticoid deficiency 1 by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.*427G>A rs150928586 0.01192
NM_000529.2(MC2R):c.*2432A>C rs187121326 0.00999
NM_000529.2(MC2R):c.*117A>T rs149746538 0.00237
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile) rs559032155 0.00087
NM_000529.2(MC2R):c.*2065G>A rs193046675 0.00053
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr) rs554966392 0.00038
NM_000529.2(MC2R):c.*2323C>T rs149107575 0.00023
NM_000529.2(MC2R):c.*1619G>A rs570920789 0.00009
NM_000529.2(MC2R):c.*2224A>C rs551809146 0.00004
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178

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