ClinVar Miner

List of variants in gene MAX reported as likely benign for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.*603C>G rs117802316 0.01457
NM_002382.5(MAX):c.*405G>A rs45440292 0.00825
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299 0.00011
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107 0.00009
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002382.5(MAX):c.*44G>A rs767990726 0.00003
NM_002382.5(MAX):c.295+8C>G rs754409025 0.00003
NM_002382.5(MAX):c.172-12A>G rs746620560 0.00002
NM_002382.5(MAX):c.295+10C>T rs375446224 0.00002
NM_002382.5(MAX):c.295+6C>T rs146552320 0.00002
NM_002382.5(MAX):c.296-13G>C rs765385240 0.00002
NM_002382.5(MAX):c.296-18C>T rs908323739 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870 0.00002
NM_002382.5(MAX):c.63+8T>C rs776724315 0.00002
NM_002382.5(MAX):c.172-16T>C rs1316320305 0.00001
NM_002382.5(MAX):c.172-7G>A rs1450450380 0.00001
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213 0.00001
NM_002382.5(MAX):c.282T>C (p.Leu94=) rs1413313831 0.00001
NM_002382.5(MAX):c.295+11G>A rs759033476 0.00001
NM_002382.5(MAX):c.37-10C>G rs1457798349 0.00001
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588 0.00001
NM_002382.5(MAX):c.39A>G (p.Glu13=) rs780941187 0.00001
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673 0.00001
NM_002382.5(MAX):c.438T>C (p.Pro146=) rs1259526031 0.00001
NM_002382.5(MAX):c.450A>G (p.Gln150=) rs2063058995 0.00001
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320 0.00001
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308 0.00001
NM_002382.5(MAX):c.172-10_172-9del
NM_002382.5(MAX):c.172-13C>T rs2063106962
NM_002382.5(MAX):c.172-14T>C
NM_002382.5(MAX):c.172-15C>T
NM_002382.5(MAX):c.172-17T>C
NM_002382.5(MAX):c.172-6278_172-6277del
NM_002382.5(MAX):c.189C>A (p.Ile63=)
NM_002382.5(MAX):c.213C>T (p.Ile71=) rs777274451
NM_002382.5(MAX):c.216G>A (p.Gln72=) rs2139754832
NM_002382.5(MAX):c.225A>C (p.Arg75=) rs2063104742
NM_002382.5(MAX):c.261C>T (p.Asp87=) rs750761201
NM_002382.5(MAX):c.264C>T (p.Leu88=) rs2139753133
NM_002382.5(MAX):c.267G>A (p.Lys89=)
NM_002382.5(MAX):c.268C>A (p.Arg90=) rs1060500099
NM_002382.5(MAX):c.270G>C (p.Arg90=)
NM_002382.5(MAX):c.288G>A (p.Glu96=) rs1595130838
NM_002382.5(MAX):c.291G>A (p.Gln97=) rs1046488730
NM_002382.5(MAX):c.295+10C>G rs375446224
NM_002382.5(MAX):c.295+11G>T
NM_002382.5(MAX):c.295+14C>G rs762605226
NM_002382.5(MAX):c.295+14C>T
NM_002382.5(MAX):c.295+16C>G rs537719104
NM_002382.5(MAX):c.295+16C>T rs537719104
NM_002382.5(MAX):c.295+17G>A rs201127403
NM_002382.5(MAX):c.295+19G>A rs2139751619
NM_002382.5(MAX):c.295+8C>T rs754409025
NM_002382.5(MAX):c.295+9C>T
NM_002382.5(MAX):c.296-12G>C rs2139742201
NM_002382.5(MAX):c.296-14T>C
NM_002382.5(MAX):c.296-15T>C rs760244573
NM_002382.5(MAX):c.296-20C>T
NM_002382.5(MAX):c.296-25AC[2]
NM_002382.5(MAX):c.296-4T>C rs2139742186
NM_002382.5(MAX):c.297C>T (p.Val99=)
NM_002382.5(MAX):c.303A>G (p.Ala101=)
NM_002382.5(MAX):c.306G>A (p.Leu102=)
NM_002382.5(MAX):c.309G>A (p.Glu103=) rs2139741966
NM_002382.5(MAX):c.315G>A (p.Ala105=) rs761220254
NM_002382.5(MAX):c.321A>G (p.Ser107=)
NM_002382.5(MAX):c.327C>T (p.Ala109=) rs1595127360
NM_002382.5(MAX):c.330A>G (p.Gln110=) rs772661746
NM_002382.5(MAX):c.333G>A (p.Leu111=) rs2139741549
NM_002382.5(MAX):c.336G>A (p.Gln112=) rs1595127306
NM_002382.5(MAX):c.339C>T (p.Thr113=) rs786203812
NM_002382.5(MAX):c.348C>T (p.Pro116=)
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.363C>T (p.Ser121=)
NM_002382.5(MAX):c.366C>T (p.Leu122=)
NM_002382.5(MAX):c.369C>T (p.Tyr123=) rs2063063134
NM_002382.5(MAX):c.37-10C>T rs1457798349
NM_002382.5(MAX):c.37-12_37-9del rs2139964910
NM_002382.5(MAX):c.37-4C>A rs747811786
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.37-6T>C rs1389763236
NM_002382.5(MAX):c.37-7A>G rs755615437
NM_002382.5(MAX):c.372C>A (p.Thr124=)
NM_002382.5(MAX):c.372C>G (p.Thr124=)
NM_002382.5(MAX):c.378C>T (p.Ala126=) rs2139740643
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.387C>T (p.Ser129=)
NM_002382.5(MAX):c.390C>T (p.Thr130=) rs2139740415
NM_002382.5(MAX):c.405T>C (p.Asp135=) rs1354621995
NM_002382.5(MAX):c.408G>A (p.Gly136=) rs764320975
NM_002382.5(MAX):c.414G>C (p.Ser138=)
NM_002382.5(MAX):c.429G>A (p.Glu143=) rs773818427
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.432T>C (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.432T>G (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.435G>A (p.Glu145=) rs1555340184
NM_002382.5(MAX):c.438T>A (p.Pro146=)
NM_002382.5(MAX):c.444G>A (p.Glu148=)
NM_002382.5(MAX):c.447C>G (p.Pro149=)
NM_002382.5(MAX):c.456G>A (p.Arg152=) rs546006873
NM_002382.5(MAX):c.459G>A (p.Lys153=) rs2139739290
NM_002382.5(MAX):c.45A>G (p.Gln15=) rs2139964326
NM_002382.5(MAX):c.474G>A (p.Glu158=)
NM_002382.5(MAX):c.48G>A (p.Pro16=) rs766338234
NM_002382.5(MAX):c.48G>C (p.Pro16=) rs766338234
NM_002382.5(MAX):c.51G>A (p.Arg17=)
NM_002382.5(MAX):c.60T>C (p.Ser20=)
NM_002382.5(MAX):c.63+10C>G rs764233219
NM_002382.5(MAX):c.63+10del rs2139963249
NM_002382.5(MAX):c.63+7C>T rs761752335
NM_002382.5(MAX):c.63+9C>G
NM_002382.5(MAX):c.63+9C>T rs1172912017

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