ClinVar Miner

List of variants in gene MAX studied for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.*587G>A rs1957949 0.52668
NM_002382.5(MAX):c.*565G>A rs1957948 0.48891
NM_002382.5(MAX):c.*1127G>C rs4902357 0.48713
NM_002382.5(MAX):c.*404C>T rs4902359 0.48552
NM_002382.5(MAX):c.*717T>C rs4902358 0.27135
NM_002382.5(MAX):c.*92G>A rs45604339 0.26844
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.*461C>T rs183428804 0.00262
NM_002382.5(MAX):c.*616C>T rs192895631 0.00103
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_002382.5(MAX):c.*1229C>T rs562514408 0.00066
NM_002382.5(MAX):c.*7C>T rs199514174 0.00051
NM_002382.5(MAX):c.*144C>T rs191382960 0.00050
NM_002382.5(MAX):c.*128T>A rs539193441 0.00029
NM_002382.5(MAX):c.*1308C>T rs527697025 0.00024
NM_002382.5(MAX):c.*873T>C rs183467855 0.00019
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_002382.5(MAX):c.*1278C>T rs541851564 0.00017
NM_002382.5(MAX):c.*1123A>C rs552459072 0.00014
NM_002382.5(MAX):c.*1276G>C rs748335228 0.00013
NM_002382.5(MAX):c.*503T>G rs886050633 0.00013
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299 0.00011
NM_002382.5(MAX):c.*375G>A rs539220905 0.00009
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107 0.00009
NM_002382.5(MAX):c.*248A>T rs559154342 0.00007
NM_002382.5(MAX):c.*297C>T rs561525266 0.00007
NM_002382.5(MAX):c.*320T>G rs750680125 0.00006
NM_002382.5(MAX):c.*534G>A rs886050632 0.00006
NM_002382.5(MAX):c.*942C>T rs886050630 0.00004
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.*170C>T rs762709691 0.00003
NM_002382.5(MAX):c.*44G>A rs767990726 0.00003
NM_002382.5(MAX):c.-127G>A rs886050637 0.00003
NM_002382.5(MAX):c.295+8C>G rs754409025 0.00003
NM_002382.5(MAX):c.*1035C>T rs1357628064 0.00002
NM_002382.5(MAX):c.*943G>A rs111875569 0.00002
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.403G>A (p.Asp135Asn) rs201312694 0.00002
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458 0.00002
NM_002382.5(MAX):c.63+8T>C rs776724315 0.00002
NM_002382.5(MAX):c.*1285T>C rs886050628 0.00001
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.223C>T (p.Arg75Ter) rs387906650 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.298C>T (p.Arg100Cys) rs762084527 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095 0.00001
NM_002382.5(MAX):c.331C>G (p.Leu111Val) rs748675729 0.00001
NM_002382.5(MAX):c.332T>G (p.Leu111Arg) rs1477107672 0.00001
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys) rs769555911 0.00001
NM_002382.5(MAX):c.346C>G (p.Pro116Ala) rs1186625283 0.00001
NM_002382.5(MAX):c.349T>G (p.Ser117Ala) rs1483314784 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.376G>A (p.Ala126Thr) rs779789251 0.00001
NM_002382.5(MAX):c.39A>G (p.Glu13=) rs780941187 0.00001
NM_002382.5(MAX):c.405T>A (p.Asp135Glu) rs1354621995 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 0.00001
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673 0.00001
NM_002382.5(MAX):c.41A>G (p.Glu14Gly) rs876660888 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 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.466C>T (p.Arg156Trp) rs768360710 0.00001
NM_002382.5(MAX):c.475G>A (p.Ala159Thr) rs779958074 0.00001
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308 0.00001
NC_000014.8:g.(?_65543194)_(65544764_?)dup
NC_000014.8:g.(?_65543194)_(65560543_?)dup
NC_000014.8:g.(?_65543194)_(65569057_?)dup
NC_000014.8:g.(?_65568254)_(65569057_?)dup
NC_000014.9:g.(?_65076466)_(65102349_?)dup
NC_000014.9:g.(?_65093698)_(65102349_?)del
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*169T>C rs567680521
NM_002382.5(MAX):c.*344T>A rs561238353
NM_002382.5(MAX):c.*608CA[1] rs886050631
NM_002382.5(MAX):c.*65G>C rs566299166
NM_002382.5(MAX):c.*678C>T rs934021031
NM_002382.5(MAX):c.*700G>T rs139403325
NM_002382.5(MAX):c.*96C>G rs949792280
NM_002382.5(MAX):c.-152TG[8] rs886050638
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.172-5C>G rs2063106610
NM_002382.5(MAX):c.172-6278_172-6277del
NM_002382.5(MAX):c.172G>A (p.Ala58Thr) rs2063106441
NM_002382.5(MAX):c.173C>T (p.Ala58Val) rs2063106341
NM_002382.5(MAX):c.178C>T (p.Arg60Trp) rs2063106124
NM_002382.5(MAX):c.179G>A (p.Arg60Gln) rs2063106020
NM_002382.5(MAX):c.181G>T (p.Ala61Ser)
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
NM_002382.5(MAX):c.183_195del (p.Gln62fs)
NM_002382.5(MAX):c.189C>A (p.Ile63=)
NM_002382.5(MAX):c.191T>C (p.Leu64Pro)
NM_002382.5(MAX):c.194A>G (p.Asp65Gly)
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
NM_002382.5(MAX):c.197A>G (p.Lys66Arg) rs2063105729
NM_002382.5(MAX):c.198A>C (p.Lys66Asn)
NM_002382.5(MAX):c.205_206del (p.Glu69fs) rs2139755167
NM_002382.5(MAX):c.208T>C (p.Tyr70His)
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys) rs2139755062
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
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.218A>G (p.Tyr73Cys) rs2063105092
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
NM_002382.5(MAX):c.225A>C (p.Arg75=) rs2063104742
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
NM_002382.5(MAX):c.234_235dup (p.His79fs)
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
NM_002382.5(MAX):c.242_243dup (p.Gln82fs) rs2063104408
NM_002382.5(MAX):c.243C>A (p.His81Gln) rs1242630320
NM_002382.5(MAX):c.244C>G (p.Gln82Glu) rs2063104349
NM_002382.5(MAX):c.246G>C (p.Gln82His) rs2063104208
NM_002382.5(MAX):c.259G>A (p.Asp87Asn) rs758700113
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.265A>G (p.Lys89Glu)
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
NM_002382.5(MAX):c.266A>G (p.Lys89Arg) rs2063103739
NM_002382.5(MAX):c.267G>A (p.Lys89=)
NM_002382.5(MAX):c.268C>A (p.Arg90=) rs1060500099
NM_002382.5(MAX):c.268C>T (p.Arg90Trp) rs1060500099
NM_002382.5(MAX):c.269G>A (p.Arg90Gln) rs876659562
NM_002382.5(MAX):c.269G>C (p.Arg90Pro)
NM_002382.5(MAX):c.270G>C (p.Arg90=)
NM_002382.5(MAX):c.275A>G (p.Asn92Ser)
NM_002382.5(MAX):c.277G>A (p.Ala93Thr) rs1555340540
NM_002382.5(MAX):c.277G>C (p.Ala93Pro) rs1555340540
NM_002382.5(MAX):c.280C>A (p.Leu94Ile) rs1595130897
NM_002382.5(MAX):c.280C>G (p.Leu94Val) rs1595130897
NM_002382.5(MAX):c.280C>T (p.Leu94Phe)
NM_002382.5(MAX):c.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.285G>A (p.Leu95=) rs878854500
NM_002382.5(MAX):c.288G>A (p.Glu96=) rs1595130838
NM_002382.5(MAX):c.289C>T (p.Gln97Ter) rs1167538050
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+1G>A rs786203385
NM_002382.5(MAX):c.295+1G>T rs786203385
NM_002382.5(MAX):c.295+2_295+3del rs2063102803
NM_002382.5(MAX):c.295+3G>T
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.296-1G>A rs1555340265
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.300_309dup (p.Lys104fs)
NM_002382.5(MAX):c.301G>A (p.Ala101Thr) rs2063066138
NM_002382.5(MAX):c.303A>G (p.Ala101=)
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
NM_002382.5(MAX):c.306G>A (p.Leu102=)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly) rs1595127413
NM_002382.5(MAX):c.309G>A (p.Glu103=) rs2139741966
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
NM_002382.5(MAX):c.311A>G (p.Lys104Arg) rs2139741946
NM_002382.5(MAX):c.315G>A (p.Ala105=) rs761220254
NM_002382.5(MAX):c.321A>G (p.Ser107=)
NM_002382.5(MAX):c.323G>A (p.Ser108Asn) rs2063065719
NM_002382.5(MAX):c.325G>A (p.Ala109Thr) rs2139741730
NM_002382.5(MAX):c.327C>T (p.Ala109=) rs1595127360
NM_002382.5(MAX):c.328C>G (p.Gln110Glu) rs2063065600
NM_002382.5(MAX):c.330A>G (p.Gln110=) rs772661746
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
NM_002382.5(MAX):c.333G>A (p.Leu111=) rs2139741549
NM_002382.5(MAX):c.334C>T (p.Gln112Ter)
NM_002382.5(MAX):c.335A>G (p.Gln112Arg) rs1234074950
NM_002382.5(MAX):c.336G>A (p.Gln112=) rs1595127306
NM_002382.5(MAX):c.336G>C (p.Gln112His) rs1595127306
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.339C>T (p.Thr113=) rs786203812
NM_002382.5(MAX):c.341A>G (p.Asn114Ser) rs772912674
NM_002382.5(MAX):c.343T>C (p.Tyr115His)
NM_002382.5(MAX):c.346C>T (p.Pro116Ser) rs1186625283
NM_002382.5(MAX):c.348C>T (p.Pro116=)
NM_002382.5(MAX):c.350C>T (p.Ser117Phe) rs2139741158
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.353C>G (p.Ser118Ter)
NM_002382.5(MAX):c.353C>T (p.Ser118Leu) rs2063063803
NM_002382.5(MAX):c.355G>A (p.Asp119Asn)
NM_002382.5(MAX):c.356A>G (p.Asp119Gly)
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
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.37-15del rs747340873
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002382.5(MAX):c.37-3_37-2insG
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.373A>C (p.Asn125His) rs2063062933
NM_002382.5(MAX):c.373A>T (p.Asn125Tyr)
NM_002382.5(MAX):c.376G>T (p.Ala126Ser) rs779789251
NM_002382.5(MAX):c.378C>T (p.Ala126=) rs2139740643
NM_002382.5(MAX):c.37_38del (p.Glu13fs)
NM_002382.5(MAX):c.380A>G (p.Lys127Arg) rs2063062410
NM_002382.5(MAX):c.382G>A (p.Gly128Ser) rs2139740580
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.385A>G (p.Ser129Gly) rs2063062255
NM_002382.5(MAX):c.385A>T (p.Ser129Cys)
NM_002382.5(MAX):c.387C>A (p.Ser129Arg) rs2063062162
NM_002382.5(MAX):c.387C>T (p.Ser129=)
NM_002382.5(MAX):c.388A>G (p.Thr130Ala) rs1566598180
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
NM_002382.5(MAX):c.390C>T (p.Thr130=) rs2139740415
NM_002382.5(MAX):c.391A>G (p.Ile131Val) rs1595127131
NM_002382.5(MAX):c.398C>T (p.Ala133Val)
NM_002382.5(MAX):c.403G>C (p.Asp135His) rs201312694
NM_002382.5(MAX):c.405T>C (p.Asp135=) rs1354621995
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.408G>A (p.Gly136=) rs764320975
NM_002382.5(MAX):c.409G>C (p.Gly137Arg) rs17852278
NM_002382.5(MAX):c.410del (p.Gly137fs) rs2139740118
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.414G>C (p.Ser138=)
NM_002382.5(MAX):c.416A>T (p.Asp139Val) rs2139739937
NM_002382.5(MAX):c.417C>G (p.Asp139Glu) rs2139739918
NM_002382.5(MAX):c.422G>C (p.Ser141Thr) rs1159227189
NM_002382.5(MAX):c.424T>C (p.Ser142Pro)
NM_002382.5(MAX):c.429G>A (p.Glu143=) rs773818427
NM_002382.5(MAX):c.429G>C (p.Glu143Asp) rs773818427
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
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.436C>T (p.Pro146Ser)
NM_002382.5(MAX):c.438T>A (p.Pro146=)
NM_002382.5(MAX):c.439G>A (p.Glu147Lys) rs2063059506
NM_002382.5(MAX):c.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.444G>A (p.Glu148=)
NM_002382.5(MAX):c.447C>G (p.Pro149=)
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
NM_002382.5(MAX):c.452G>A (p.Ser151Asn) rs2139739378
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.460A>G (p.Lys154Glu)
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.46C>A (p.Pro16Thr)
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
NM_002382.5(MAX):c.473A>G (p.Glu158Gly)
NM_002382.5(MAX):c.474G>A (p.Glu158=)
NM_002382.5(MAX):c.478del (p.Ser160fs)
NM_002382.5(MAX):c.47C>T (p.Pro16Leu) rs2063834899
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.49A>G (p.Arg17Gly)
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
NM_002382.5(MAX):c.51G>A (p.Arg17=)
NM_002382.5(MAX):c.52T>A (p.Phe18Ile) rs2139963969
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_002382.5(MAX):c.57A>C (p.Gln19His) rs1395966308
NM_002382.5(MAX):c.58T>C (p.Ser20Pro) rs2063833930
NM_002382.5(MAX):c.59C>A (p.Ser20Tyr)
NM_002382.5(MAX):c.59C>T (p.Ser20Phe)
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
NM_002382.5(MAX):c.63G>T (p.Ala21=) rs765338814
NR_073138.1(MAX):n.146C>G rs899541680

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