ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_001128840.3(CACNA1D):c.1220+678G>A rs386834264
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501

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