ClinVar Miner

List of variants reported as uncertain significance for Cushing syndrome due to macronodular adrenal hyperplasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg) rs200951744 0.00172
NM_001105247.2(ARMC5):c.1864+198T>A rs150981686 0.00129
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His) rs752232472 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys)
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381

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