ClinVar Miner

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

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys) rs779080006 0.00002
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000383.4(AIRE):c.1504-818G>A rs181779633
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
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln) rs200504859

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