ClinVar Miner

List of variants studied for adrenal gland disease by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000319.4(PEX5):c.449-2A>G rs1555176945
NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.2(PEX1):c.2916delA (p.Gly973Alafs) rs61750426
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_020975.4(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.4(RET):c.1859G>T (p.Cys620Phe) rs77503355

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