ClinVar Miner

List of variants studied for adrenocortical insufficiency by Myriad Genetics, Inc.

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820 0.00002
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887 0.00001
NM_000349.3(STAR):c.203del (p.Tyr68fs) rs2487067650
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs) rs2487067594
NM_000349.3(STAR):c.229del (p.Gln77fs) rs2487067543
NM_000349.3(STAR):c.271_272del (p.Ser91fs) rs2487067364
NM_000349.3(STAR):c.391_392insT (p.Glu131fs) rs2487063393
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs) rs2487063377
NM_000349.3(STAR):c.436G>T (p.Glu146Ter) rs2487063127
NM_000349.3(STAR):c.475A>T (p.Lys159Ter) rs2487062310
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs) rs2487062209
NM_000349.3(STAR):c.503dup (p.His168fs) rs2487062211
NM_000349.3(STAR):c.611_612del (p.Thr204fs) rs772816005
NM_000349.3(STAR):c.82_83insA (p.Val28fs) rs2487069265
NM_000349.3(STAR):c.97del (p.Gln33fs) rs2487069210
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter) rs2130277148
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) rs1479660166
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs) rs2488678202
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs) rs2488678148
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter) rs2488678145
NM_000497.4(CYP11B1):c.712dup (p.Met238fs) rs2488678124
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs) rs2488678074
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs) rs2488678032
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs) rs2488677593
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter) rs1360208732
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) rs2488677362
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs) rs2488677344
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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