ClinVar Miner

List of variants reported as likely benign for adrenal gland disorder by Genome-Nilou Lab

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24865
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_000102.4(CYP17A1):c.1243+83C>A rs284849 0.15759
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946 0.00025
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000383.4(AIRE):c.1401-28G>A rs1800526

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