ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disorder by Natera, Inc.

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) rs104894154 0.00003
NM_000349.3(STAR):c.745-1G>C rs374297649 0.00002
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) rs1423560123
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr) rs1423560123
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000349.3(STAR):c.307-1G>A rs2130614519
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.798+1G>T rs138489664

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