ClinVar Miner

List of variants reported as likely benign for Amelocerebrohypohidrotic syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.*380G>A rs3210637 0.04572
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) rs144866271 0.00220
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.810G>A (p.Gln270=) rs137912684 0.00139
NM_024589.3(ROGDI):c.118-13C>G rs201794245 0.00137
NM_024589.3(ROGDI):c.117+9C>G rs374732191 0.00092
NM_024589.3(ROGDI):c.*347G>T rs117730440 0.00055
NM_024589.3(ROGDI):c.516C>T (p.Ala172=) rs140043147 0.00042
NM_024589.3(ROGDI):c.348C>T (p.Ala116=) rs148870636 0.00032
NM_024589.3(ROGDI):c.823-14C>G rs201283169 0.00029
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.420T>C (p.Ala140=) rs1464249475 0.00023
NM_024589.3(ROGDI):c.27G>C (p.Ala9=) rs766321436 0.00021
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_024589.3(ROGDI):c.646-11G>A rs371728918 0.00011
NM_024589.3(ROGDI):c.695+16C>T rs377688304 0.00011
NM_024589.3(ROGDI):c.433-14G>A rs772226487 0.00010
NM_024589.3(ROGDI):c.45+16C>A rs750545355 0.00010
NM_024589.3(ROGDI):c.696-8G>T rs3747609 0.00008
NM_024589.3(ROGDI):c.822+18G>A rs774729804 0.00008
NM_024589.3(ROGDI):c.823-10C>T rs199642172 0.00007
NM_024589.3(ROGDI):c.46-11C>T rs368078091 0.00006
NM_024589.3(ROGDI):c.669G>A (p.Ala223=) rs143402543 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.822+9G>A rs765281930 0.00006
NM_024589.3(ROGDI):c.433-5T>C rs971078433 0.00005
NM_024589.3(ROGDI):c.747C>T (p.Cys249=) rs375794279 0.00005
NM_024589.3(ROGDI):c.175G>A (p.Glu59Lys) rs2305659 0.00004
NM_024589.3(ROGDI):c.201-15C>T rs369198714 0.00004
NM_024589.3(ROGDI):c.441C>T (p.Asp147=) rs777109541 0.00004
NM_024589.3(ROGDI):c.46-12T>A rs975146129 0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.714C>T (p.Arg238=) rs767322805 0.00004
NM_024589.3(ROGDI):c.729C>T (p.His243=) rs1232041975 0.00004
NM_024589.3(ROGDI):c.823-8C>T rs374259109 0.00004
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) rs767023578 0.00004
NM_024589.3(ROGDI):c.187C>T (p.Leu63=) rs372790777 0.00003
NM_024589.3(ROGDI):c.46-5C>T rs540065993 0.00003
NM_024589.3(ROGDI):c.501C>T (p.Thr167=) rs200727029 0.00003
NM_024589.3(ROGDI):c.531+10C>T rs201876912 0.00003
NM_024589.3(ROGDI):c.588C>T (p.Leu196=) rs766970849 0.00003
NM_024589.3(ROGDI):c.621T>C (p.His207=) rs923393796 0.00003
NM_024589.3(ROGDI):c.118-11C>G rs371176268 0.00002
NM_024589.3(ROGDI):c.255+11C>T rs779818616 0.00002
NM_024589.3(ROGDI):c.337-13C>T rs762762043 0.00002
NM_024589.3(ROGDI):c.433-7C>A rs1387616706 0.00002
NM_024589.3(ROGDI):c.666C>T (p.Gly222=) rs750000066 0.00002
NM_024589.3(ROGDI):c.765C>T (p.Asn255=) rs144724709 0.00002
NM_024589.3(ROGDI):c.768C>T (p.Asp256=) rs753887163 0.00002
NM_024589.3(ROGDI):c.823-4G>A rs1024913332 0.00002
NM_024589.3(ROGDI):c.117+20C>G rs775190336 0.00001
NM_024589.3(ROGDI):c.118-6C>T rs760381641 0.00001
NM_024589.3(ROGDI):c.186C>T (p.Ile62=) rs1216877367 0.00001
NM_024589.3(ROGDI):c.201-13C>T rs1240510403 0.00001
NM_024589.3(ROGDI):c.201-9A>T rs749175130 0.00001
NM_024589.3(ROGDI):c.21G>A (p.Ala7=) rs1216626161 0.00001
NM_024589.3(ROGDI):c.249C>T (p.Ser83=) rs769659198 0.00001
NM_024589.3(ROGDI):c.256-4T>C rs1455512655 0.00001
NM_024589.3(ROGDI):c.256-5G>A rs572561598 0.00001
NM_024589.3(ROGDI):c.256-7C>G rs374098348 0.00001
NM_024589.3(ROGDI):c.267G>A (p.Leu89=) rs770605828 0.00001
NM_024589.3(ROGDI):c.292C>T (p.Leu98=) rs1366205416 0.00001
NM_024589.3(ROGDI):c.333G>A (p.Gln111=) rs1263184916 0.00001
NM_024589.3(ROGDI):c.336+8C>T rs1447116245 0.00001
NM_024589.3(ROGDI):c.36G>A (p.Arg12=) rs1034942616 0.00001
NM_024589.3(ROGDI):c.375C>T (p.Tyr125=) rs748410768 0.00001
NM_024589.3(ROGDI):c.376C>T (p.Leu126=) rs775252143 0.00001
NM_024589.3(ROGDI):c.432+14G>A rs568004509 0.00001
NM_024589.3(ROGDI):c.432+17C>T rs377687764 0.00001
NM_024589.3(ROGDI):c.447G>C (p.Val149=) rs1060504776 0.00001
NM_024589.3(ROGDI):c.45+15C>T rs1408044583 0.00001
NM_024589.3(ROGDI):c.46-4G>A rs775523259 0.00001
NM_024589.3(ROGDI):c.48G>A (p.Glu16=) rs771954544 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.531+20C>T rs1258798420 0.00001
NM_024589.3(ROGDI):c.532-5C>T rs756577944 0.00001
NM_024589.3(ROGDI):c.532-7C>T rs1273592198 0.00001
NM_024589.3(ROGDI):c.540C>T (p.Phe180=) rs373433527 0.00001
NM_024589.3(ROGDI):c.546T>C (p.Pro182=) rs753694941 0.00001
NM_024589.3(ROGDI):c.573C>T (p.Asn191=) rs780108056 0.00001
NM_024589.3(ROGDI):c.651C>T (p.Phe217=) rs773539275 0.00001
NM_024589.3(ROGDI):c.696-16C>T rs373940267 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.756C>G (p.Pro252=) rs781037239 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.798G>A (p.Gln266=) rs1157020326 0.00001
NM_024589.3(ROGDI):c.819C>T (p.Asp273=) rs762853362 0.00001
NM_024589.3(ROGDI):c.91T>C (p.Leu31=) rs1201976752 0.00001
NM_024589.3(ROGDI):c.102G>C (p.Leu34=) rs758967613
NM_024589.3(ROGDI):c.111C>T (p.Ile37=)
NM_024589.3(ROGDI):c.114C>G (p.Leu38=) rs2082742435
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024589.3(ROGDI):c.117+11G>T
NM_024589.3(ROGDI):c.117+7A>G rs1394907212
NM_024589.3(ROGDI):c.117+9C>T
NM_024589.3(ROGDI):c.118-13C>T
NM_024589.3(ROGDI):c.118-14C>T
NM_024589.3(ROGDI):c.118-20T>C
NM_024589.3(ROGDI):c.118-6C>G
NM_024589.3(ROGDI):c.118-9G>C rs2082720201
NM_024589.3(ROGDI):c.132C>G (p.Arg44=)
NM_024589.3(ROGDI):c.139C>T (p.Leu47=) rs199731766
NM_024589.3(ROGDI):c.150C>T (p.Ser50=) rs781477170
NM_024589.3(ROGDI):c.162G>C (p.Gly54=) rs1596278606
NM_024589.3(ROGDI):c.165C>G (p.Pro55=) rs1455879564
NM_024589.3(ROGDI):c.180C>T (p.Asn60=) rs766718622
NM_024589.3(ROGDI):c.18A>G (p.Ala6=)
NM_024589.3(ROGDI):c.201-17G>A
NM_024589.3(ROGDI):c.201-19C>G rs746119583
NM_024589.3(ROGDI):c.201-9A>G
NM_024589.3(ROGDI):c.207C>T (p.Asp69=) rs977378578
NM_024589.3(ROGDI):c.222G>C (p.Val74=)
NM_024589.3(ROGDI):c.229C>T (p.Leu77=) rs1384593950
NM_024589.3(ROGDI):c.231G>T (p.Leu77=)
NM_024589.3(ROGDI):c.237G>A (p.Gly79=) rs771193385
NM_024589.3(ROGDI):c.237G>C (p.Gly79=)
NM_024589.3(ROGDI):c.255+12G>C
NM_024589.3(ROGDI):c.255+13G>T
NM_024589.3(ROGDI):c.255+13del rs2141911852
NM_024589.3(ROGDI):c.255+20C>G
NM_024589.3(ROGDI):c.255+20C>T
NM_024589.3(ROGDI):c.255+7_255+11dup rs1235158317
NM_024589.3(ROGDI):c.255+8C>A rs372649944
NM_024589.3(ROGDI):c.256-11T>C
NM_024589.3(ROGDI):c.256-16C>G
NM_024589.3(ROGDI):c.256-29_256-13dup
NM_024589.3(ROGDI):c.256-7C>T rs374098348
NM_024589.3(ROGDI):c.276C>G (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.276C>T (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.279G>C (p.Arg93=)
NM_024589.3(ROGDI):c.27G>A (p.Ala9=)
NM_024589.3(ROGDI):c.29C>G (p.Ala10Gly) rs1324617654
NM_024589.3(ROGDI):c.300C>T (p.Phe100=)
NM_024589.3(ROGDI):c.309G>A (p.Arg103=)
NM_024589.3(ROGDI):c.309G>C (p.Arg103=)
NM_024589.3(ROGDI):c.336+12C>T
NM_024589.3(ROGDI):c.336+13C>G
NM_024589.3(ROGDI):c.336+13C>T
NM_024589.3(ROGDI):c.336+19G>T rs941485363
NM_024589.3(ROGDI):c.336+8C>A
NM_024589.3(ROGDI):c.337-11C>A
NM_024589.3(ROGDI):c.337-15G>T
NM_024589.3(ROGDI):c.348C>A (p.Ala116=) rs148870636
NM_024589.3(ROGDI):c.34C>A (p.Arg12=)
NM_024589.3(ROGDI):c.357T>C (p.His119=) rs2082694921
NM_024589.3(ROGDI):c.360G>A (p.Val120=) rs2141909392
NM_024589.3(ROGDI):c.36G>C (p.Arg12=) rs1034942616
NM_024589.3(ROGDI):c.432+11C>G
NM_024589.3(ROGDI):c.432+12C>A
NM_024589.3(ROGDI):c.432+16G>A rs979625188
NM_024589.3(ROGDI):c.432+8G>A rs538455657
NM_024589.3(ROGDI):c.433-13C>T
NM_024589.3(ROGDI):c.433-18C>T
NM_024589.3(ROGDI):c.433-8C>T
NM_024589.3(ROGDI):c.435G>A (p.Leu145=) rs1052275164
NM_024589.3(ROGDI):c.45+11C>G rs1402877289
NM_024589.3(ROGDI):c.45+12G>A rs2082746531
NM_024589.3(ROGDI):c.45+14G>A
NM_024589.3(ROGDI):c.45+17A>G
NM_024589.3(ROGDI):c.45+9C>T
NM_024589.3(ROGDI):c.453G>C (p.Leu151=) rs2082683229
NM_024589.3(ROGDI):c.46-13G>T rs1283060910
NM_024589.3(ROGDI):c.46-14G>T rs776356340
NM_024589.3(ROGDI):c.46-15G>A
NM_024589.3(ROGDI):c.46-18G>T
NM_024589.3(ROGDI):c.46-20C>T rs1356575308
NM_024589.3(ROGDI):c.46-4G>T rs775523259
NM_024589.3(ROGDI):c.46-6C>T rs1185670210
NM_024589.3(ROGDI):c.46-7C>T
NM_024589.3(ROGDI):c.480C>T (p.Leu160=) rs1425221368
NM_024589.3(ROGDI):c.486C>T (p.Thr162=)
NM_024589.3(ROGDI):c.492C>T (p.Ala164=)
NM_024589.3(ROGDI):c.513C>T (p.Ile171=) rs774067328
NM_024589.3(ROGDI):c.525C>T (p.Gly175=)
NM_024589.3(ROGDI):c.531+11C>T
NM_024589.3(ROGDI):c.531+14C>T
NM_024589.3(ROGDI):c.531+15_531+24del rs1239705757
NM_024589.3(ROGDI):c.532-11G>A
NM_024589.3(ROGDI):c.532-17C>T rs1192772817
NM_024589.3(ROGDI):c.534G>A (p.Arg178=) rs2141906632
NM_024589.3(ROGDI):c.555G>A (p.Pro185=) rs771793763
NM_024589.3(ROGDI):c.558C>T (p.Ser186=) rs575384175
NM_024589.3(ROGDI):c.561C>T (p.Asp187=) rs921046328
NM_024589.3(ROGDI):c.562C>T (p.Leu188=)
NM_024589.3(ROGDI):c.570C>G (p.Val190=)
NM_024589.3(ROGDI):c.570C>T (p.Val190=) rs769206337
NM_024589.3(ROGDI):c.588C>G (p.Leu196=) rs766970849
NM_024589.3(ROGDI):c.597C>T (p.Leu199=)
NM_024589.3(ROGDI):c.60C>A (p.Arg20=) rs1324673983
NM_024589.3(ROGDI):c.612C>T (p.Tyr204=) rs1555491054
NM_024589.3(ROGDI):c.616C>T (p.Leu206=)
NM_024589.3(ROGDI):c.625C>T (p.Leu209=) rs144866271
NM_024589.3(ROGDI):c.645+13C>T
NM_024589.3(ROGDI):c.645+15C>T
NM_024589.3(ROGDI):c.645+7_645+9del
NM_024589.3(ROGDI):c.645+8G>A rs1596274925
NM_024589.3(ROGDI):c.646-16G>T
NM_024589.3(ROGDI):c.646-19C>G rs761021735
NM_024589.3(ROGDI):c.66G>A (p.Leu22=) rs1452732971
NM_024589.3(ROGDI):c.675G>C (p.Leu225=) rs752089137
NM_024589.3(ROGDI):c.681C>T (p.Ser227=) rs2082673176
NM_024589.3(ROGDI):c.695+13G>A
NM_024589.3(ROGDI):c.695+15G>A rs372447369
NM_024589.3(ROGDI):c.695+17G>A
NM_024589.3(ROGDI):c.695+17G>C
NM_024589.3(ROGDI):c.695+7A>G rs1555490999
NM_024589.3(ROGDI):c.696-10C>T
NM_024589.3(ROGDI):c.696-15T>G rs1567597183
NM_024589.3(ROGDI):c.696-18C>A
NM_024589.3(ROGDI):c.696-20G>A
NM_024589.3(ROGDI):c.696-26_696-14del rs1336885108
NM_024589.3(ROGDI):c.696-5C>T rs2141905536
NM_024589.3(ROGDI):c.714C>A (p.Arg238=) rs767322805
NM_024589.3(ROGDI):c.735C>T (p.His245=)
NM_024589.3(ROGDI):c.741G>T (p.Val247=) rs2082670478
NM_024589.3(ROGDI):c.75C>T (p.Asp25=)
NM_024589.3(ROGDI):c.762C>A (p.Leu254=)
NM_024589.3(ROGDI):c.771C>T (p.Ala257=)
NM_024589.3(ROGDI):c.774G>C (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.777C>T (p.Val259=) rs372599256
NM_024589.3(ROGDI):c.786C>T (p.Thr262=) rs146812127
NM_024589.3(ROGDI):c.789C>A (p.Val263=)
NM_024589.3(ROGDI):c.78G>A (p.Glu26=) rs145718534
NM_024589.3(ROGDI):c.801C>T (p.Leu267=) rs752844190
NM_024589.3(ROGDI):c.822+13C>G
NM_024589.3(ROGDI):c.822+14G>T
NM_024589.3(ROGDI):c.822+19C>T
NM_024589.3(ROGDI):c.823-14C>T rs201283169
NM_024589.3(ROGDI):c.823-19G>C
NM_024589.3(ROGDI):c.823-20A>G
NM_024589.3(ROGDI):c.825C>A (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.825C>T (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.831G>A (p.Val277=)
NM_024589.3(ROGDI):c.837C>A (p.Ser279=) rs762201577
NM_024589.3(ROGDI):c.852C>T (p.Tyr284=)
NM_024589.3(ROGDI):c.858C>G (p.Pro286=) rs536893774
NM_024589.3(ROGDI):c.96G>A (p.Lys32=)
NM_024589.3(ROGDI):c.9C>T (p.Thr3=)

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