ClinVar Miner

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

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820 0.00002
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
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_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
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)
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.406-1G>A
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.77+1G>C
NM_004168.4(SDHA):c.1065-2A>G
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1432+2T>G
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1664-16_1666del
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.63+1G>C
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.895+1del rs2126568833

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