ClinVar Miner

List of variants studied for Glucocorticoid deficiency 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile) rs559032155 0.00087
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr) rs554966392 0.00038
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) rs1208417750 0.00004
NM_000529.2(MC2R):c.73G>A (p.Val25Ile)
NM_000529.2(MC2R):c.784G>A (p.Gly262Ser)

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