ClinVar Miner

List of variants studied for adrenal cortex disorder by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264

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