ClinVar Miner

List of variants reported as likely pathogenic for adrenocortical insufficiency by Myriad Genetics, Inc.

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820 0.00002
NM_000349.3(STAR):c.203del (p.Tyr68fs)
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
NM_000349.3(STAR):c.229del (p.Gln77fs)
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
NM_000349.3(STAR):c.503dup (p.His168fs)
NM_000349.3(STAR):c.611_612del (p.Thr204fs)
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
NM_000349.3(STAR):c.97del (p.Gln33fs)
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) rs1479660166
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) rs5290
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) rs1816949224
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)

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