ClinVar Miner

List of variants studied for adrenal gland hyperfunction by New York Genome Center

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys) rs779080006 0.00002
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln) rs1193226150
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile) rs2094998922
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu) rs142057539
NM_001128840.3(CACNA1D):c.484-53385T>G rs2107845171

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