ClinVar Miner

List of variants reported as uncertain significance for amelocerebrohypohidrotic syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.*44C>G rs200440067 0.00096
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_024589.2(ROGDI):c.-131C>G rs186867384 0.00070
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_024589.2(ROGDI):c.-338C>T rs757790008 0.00054
NM_024589.3(ROGDI):c.658G>A (p.Ala220Thr) rs546063670 0.00027
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) rs149138180 0.00022
NM_024589.3(ROGDI):c.*454G>A rs540581745 0.00019
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.541G>A (p.Ala181Thr) rs750166706 0.00016
NM_024589.3(ROGDI):c.577T>C (p.Tyr193His) rs376765258 0.00016
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_024589.3(ROGDI):c.781T>C (p.Phe261Leu) rs371511979 0.00014
NM_024589.3(ROGDI):c.485C>A (p.Thr162Asn) rs754416466 0.00013
NM_024589.3(ROGDI):c.178A>G (p.Asn60Asp) rs997016379 0.00011
NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr) rs544047205 0.00011
NM_024589.3(ROGDI):c.523G>A (p.Gly175Ser) rs376116493 0.00011
NM_024589.3(ROGDI):c.691A>G (p.Met231Val) rs137934107 0.00011
NM_024589.3(ROGDI):c.344A>G (p.Asp115Gly) rs771509465 0.00010
NM_024589.3(ROGDI):c.*54C>G rs76593206 0.00009
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg) rs374819268 0.00009
NM_024589.3(ROGDI):c.574G>A (p.Val192Ile) rs201931071 0.00009
NM_024589.3(ROGDI):c.659C>G (p.Ala220Gly) rs138707436 0.00009
NM_024589.3(ROGDI):c.20C>A (p.Ala7Glu) rs752140233 0.00008
NM_024589.2(ROGDI):c.-127C>T rs996686042 0.00006
NM_024589.3(ROGDI):c.218G>C (p.Gly73Ala) rs201865380 0.00006
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln) rs374603311 0.00006
NM_024589.3(ROGDI):c.397A>G (p.Ser133Gly) rs987191768 0.00006
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser) rs201116642 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.697G>A (p.Glu233Lys) rs370388318 0.00004
NM_024589.3(ROGDI):c.811C>T (p.Leu271Phe) rs766106593 0.00004
NM_024589.3(ROGDI):c.836C>G (p.Ser279Cys) rs765616394 0.00004
NM_024589.3(ROGDI):c.274C>A (p.Pro92Thr) rs143620755 0.00003
NM_024589.3(ROGDI):c.301G>A (p.Ala101Thr) rs371783831 0.00003
NM_024589.3(ROGDI):c.388C>T (p.Arg130Trp) rs758414235 0.00003
NM_024589.3(ROGDI):c.418G>A (p.Ala140Thr) rs146815588 0.00003
NM_024589.3(ROGDI):c.49G>A (p.Glu17Lys) rs745342114 0.00003
NM_024589.3(ROGDI):c.4G>A (p.Ala2Thr) rs1022157711 0.00003
NM_024589.3(ROGDI):c.559G>A (p.Asp187Asn) rs773589345 0.00003
NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr) rs965246266 0.00003
NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser) rs80033521 0.00003
NM_024589.3(ROGDI):c.620A>G (p.His207Arg) rs994876248 0.00003
NM_024589.3(ROGDI):c.667G>T (p.Ala223Ser) rs756917973 0.00003
NM_024589.3(ROGDI):c.851A>G (p.Tyr284Cys) rs370584122 0.00003
NM_024589.2(ROGDI):c.-74A>C rs886052039 0.00002
NM_024589.3(ROGDI):c.19G>A (p.Ala7Thr) rs1350070250 0.00002
NM_024589.3(ROGDI):c.356A>G (p.His119Arg) rs905717859 0.00002
NM_024589.3(ROGDI):c.553C>T (p.Pro185Ser) rs775198813 0.00002
NM_024589.3(ROGDI):c.646-6C>G rs200792197 0.00002
NM_024589.3(ROGDI):c.724A>G (p.Ser242Gly) rs148274786 0.00002
NM_024589.3(ROGDI):c.785C>G (p.Thr262Ser) rs1373575683 0.00002
NM_024589.3(ROGDI):c.787G>A (p.Val263Ile) rs768480593 0.00002
NM_024589.3(ROGDI):c.829G>A (p.Val277Met) rs759234056 0.00002
NM_024589.3(ROGDI):c.*208G>A rs2082661454 0.00001
NM_024589.3(ROGDI):c.*246G>A rs1039786573 0.00001
NM_024589.3(ROGDI):c.*451C>G rs886052034 0.00001
NM_024589.3(ROGDI):c.118-3C>T rs144168578 0.00001
NM_024589.3(ROGDI):c.149C>G (p.Ser50Cys) rs2082719118 0.00001
NM_024589.3(ROGDI):c.151G>A (p.Gly51Ser) rs768939862 0.00001
NM_024589.3(ROGDI):c.154A>G (p.Thr52Ala) rs747235473 0.00001
NM_024589.3(ROGDI):c.155C>T (p.Thr52Ile) rs779951541 0.00001
NM_024589.3(ROGDI):c.190G>A (p.Gly64Ser) rs901817632 0.00001
NM_024589.3(ROGDI):c.215A>G (p.Lys72Arg) rs779096456 0.00001
NM_024589.3(ROGDI):c.254C>T (p.Ala85Val) rs748119074 0.00001
NM_024589.3(ROGDI):c.302C>G (p.Ala101Gly) rs1343790004 0.00001
NM_024589.3(ROGDI):c.308G>A (p.Arg103Gln) rs552833661 0.00001
NM_024589.3(ROGDI):c.313G>A (p.Asp105Asn) rs368831986 0.00001
NM_024589.3(ROGDI):c.318G>C (p.Lys106Asn) rs1239643038 0.00001
NM_024589.3(ROGDI):c.347C>G (p.Ala116Gly) rs1060502982 0.00001
NM_024589.3(ROGDI):c.349A>G (p.Arg117Gly) rs1434946457 0.00001
NM_024589.3(ROGDI):c.34C>T (p.Arg12Trp) rs867005426 0.00001
NM_024589.3(ROGDI):c.374A>C (p.Tyr125Ser) rs1190821261 0.00001
NM_024589.3(ROGDI):c.391G>C (p.Asp131His) rs1235377184 0.00001
NM_024589.3(ROGDI):c.427C>T (p.Leu143Phe) rs985601573 0.00001
NM_024589.3(ROGDI):c.445G>C (p.Val149Leu) rs1248019368 0.00001
NM_024589.3(ROGDI):c.470G>A (p.Arg157Gln) rs780893164 0.00001
NM_024589.3(ROGDI):c.490G>A (p.Ala164Thr) rs760780110 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.508G>A (p.Glu170Lys) rs575700252 0.00001
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) rs201213891 0.00001
NM_024589.3(ROGDI):c.531G>A (p.Thr177=) rs930841516 0.00001
NM_024589.3(ROGDI):c.591C>G (p.Asn197Lys) rs551129970 0.00001
NM_024589.3(ROGDI):c.615G>T (p.Gln205His) rs148557909 0.00001
NM_024589.3(ROGDI):c.623C>T (p.Ala208Val) rs745998638 0.00001
NM_024589.3(ROGDI):c.631C>A (p.Pro211Thr) rs943573881 0.00001
NM_024589.3(ROGDI):c.645+3G>A rs990386555 0.00001
NM_024589.3(ROGDI):c.646-6C>T rs200792197 0.00001
NM_024589.3(ROGDI):c.661G>C (p.Gly221Arg) rs757872277 0.00001
NM_024589.3(ROGDI):c.665G>A (p.Gly222Asp) rs1317312771 0.00001
NM_024589.3(ROGDI):c.695T>C (p.Phe232Ser) rs776235683 0.00001
NM_024589.3(ROGDI):c.712C>T (p.Arg238Cys) rs760809797 0.00001
NM_024589.3(ROGDI):c.730G>A (p.Val244Met) rs748820137 0.00001
NM_024589.3(ROGDI):c.740T>A (p.Val247Glu) rs1319338750 0.00001
NM_024589.3(ROGDI):c.748G>A (p.Val250Met) rs749565672 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.766G>A (p.Asp256Asn) rs1161402172 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.797A>G (p.Gln266Arg) rs2082669298 0.00001
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_024589.3(ROGDI):c.85G>A (p.Ala29Thr) rs376839753 0.00001
NM_024589.3(ROGDI):c.88G>T (p.Val30Leu) rs751917059 0.00001
NC_000016.10:g.(?_3727698)_(4802591_?)dup
NC_000016.10:g.4802447CCT[2] rs1319711782
NC_000016.9:g.(?_4847441)_(4852592_?)dup
NC_000016.9:g.(?_4847919)_(4852572_?)dup
NM_024589.2(ROGDI):c.-181G>A rs891502822
NM_024589.2(ROGDI):c.-202delG rs569838251
NM_024589.2(ROGDI):c.-325G>C rs886052040
NM_024589.2(ROGDI):c.-342C>A rs886052041
NM_024589.2(ROGDI):c.-379T>C rs886052042
NM_024589.2(ROGDI):c.-68G>C rs1167973629
NM_024589.2(ROGDI):c.-69C>T rs886052038
NM_024589.2(ROGDI):c.-89G>T rs538342367
NM_024589.3(ROGDI):c.*112C>T rs886052036
NM_024589.3(ROGDI):c.*24C>T rs756091670
NM_024589.3(ROGDI):c.*298G>A rs545854112
NM_024589.3(ROGDI):c.*355G>T rs886052035
NM_024589.3(ROGDI):c.112C>G (p.Leu38Val)
NM_024589.3(ROGDI):c.113T>G (p.Leu38Arg) rs1555491894
NM_024589.3(ROGDI):c.117+5C>G rs761951820
NM_024589.3(ROGDI):c.117+5C>T rs761951820
NM_024589.3(ROGDI):c.117+6_117+7delinsAT rs2082742151
NM_024589.3(ROGDI):c.117G>A (p.Lys39=) rs956797047
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn) rs956797047
NM_024589.3(ROGDI):c.118-10T>A rs2141912884
NM_024589.3(ROGDI):c.11T>A (p.Val4Glu) rs2082747445
NM_024589.3(ROGDI):c.120G>C (p.Glu40Asp)
NM_024589.3(ROGDI):c.137C>G (p.Thr46Ser) rs1200058055
NM_024589.3(ROGDI):c.146G>A (p.Gly49Asp)
NM_024589.3(ROGDI):c.148T>C (p.Ser50Pro)
NM_024589.3(ROGDI):c.158A>G (p.Glu53Gly)
NM_024589.3(ROGDI):c.172C>G (p.Gln58Glu)
NM_024589.3(ROGDI):c.186C>G (p.Ile62Met) rs1216877367
NM_024589.3(ROGDI):c.194G>C (p.Ser65Thr) rs2141912636
NM_024589.3(ROGDI):c.195C>G (p.Ser65Arg)
NM_024589.3(ROGDI):c.197G>A (p.Cys66Tyr) rs1555491559
NM_024589.3(ROGDI):c.1A>G (p.Met1Val) rs2082747732
NM_024589.3(ROGDI):c.202A>C (p.Thr68Pro) rs2082713943
NM_024589.3(ROGDI):c.205G>T (p.Asp69Tyr)
NM_024589.3(ROGDI):c.207C>A (p.Asp69Glu) rs977378578
NM_024589.3(ROGDI):c.234G>T (p.Gln78His) rs767642673
NM_024589.3(ROGDI):c.235G>A (p.Gly79Arg)
NM_024589.3(ROGDI):c.245T>A (p.Leu82His) rs773049349
NM_024589.3(ROGDI):c.257A>T (p.Asp86Val) rs774073956
NM_024589.3(ROGDI):c.25G>A (p.Ala9Thr) rs2141915981
NM_024589.3(ROGDI):c.260T>G (p.Val87Gly) rs1477391414
NM_024589.3(ROGDI):c.265C>A (p.Leu89Met) rs2082702685
NM_024589.3(ROGDI):c.277C>T (p.Arg93Trp) rs780503540
NM_024589.3(ROGDI):c.278G>A (p.Arg93Gln)
NM_024589.3(ROGDI):c.295C>T (p.His99Tyr)
NM_024589.3(ROGDI):c.296A>G (p.His99Arg)
NM_024589.3(ROGDI):c.2T>C (p.Met1Thr) rs2082747688
NM_024589.3(ROGDI):c.300C>A (p.Phe100Leu) rs371657994
NM_024589.3(ROGDI):c.305T>C (p.Phe102Ser) rs2141910617
NM_024589.3(ROGDI):c.317A>G (p.Lys106Arg) rs545861164
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu) rs1211419981
NM_024589.3(ROGDI):c.325A>G (p.Lys109Glu)
NM_024589.3(ROGDI):c.327G>T (p.Lys109Asn) rs888611327
NM_024589.3(ROGDI):c.336+3G>A rs765836538
NM_024589.3(ROGDI):c.336+5C>T rs2141910504
NM_024589.3(ROGDI):c.336+6C>T rs1555491410
NM_024589.3(ROGDI):c.337-16T>A rs2141909472
NM_024589.3(ROGDI):c.337-7C>G rs1596276645
NM_024589.3(ROGDI):c.35G>T (p.Arg12Leu) rs2141915953
NM_024589.3(ROGDI):c.367G>A (p.Ala123Thr)
NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn)
NM_024589.3(ROGDI):c.389G>C (p.Arg130Pro) rs374603311
NM_024589.3(ROGDI):c.392A>C (p.Asp131Ala) rs2082694603
NM_024589.3(ROGDI):c.408C>A (p.Phe136Leu)
NM_024589.3(ROGDI):c.413C>G (p.Thr138Arg) rs540638420
NM_024589.3(ROGDI):c.413C>T (p.Thr138Met)
NM_024589.3(ROGDI):c.416G>A (p.Gly139Asp) rs1567600743
NM_024589.3(ROGDI):c.421G>A (p.Glu141Lys)
NM_024589.3(ROGDI):c.423G>C (p.Glu141Asp) rs758200466
NM_024589.3(ROGDI):c.424G>T (p.Val142Phe) rs1255273555
NM_024589.3(ROGDI):c.433-6C>G rs1892013977
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu) rs886052037
NM_024589.3(ROGDI):c.46-5C>G rs540065993
NM_024589.3(ROGDI):c.465A>C (p.Arg155Ser) rs1367837038
NM_024589.3(ROGDI):c.467C>T (p.Ala156Val) rs2141907538
NM_024589.3(ROGDI):c.46G>C (p.Glu16Gln) rs2082744243
NM_024589.3(ROGDI):c.485C>T (p.Thr162Ile) rs754416466
NM_024589.3(ROGDI):c.503T>A (p.Leu168His) rs1465183649
NM_024589.3(ROGDI):c.530C>A (p.Thr177Lys) rs571018862
NM_024589.3(ROGDI):c.530C>T (p.Thr177Met) rs571018862
NM_024589.3(ROGDI):c.531+5G>T
NM_024589.3(ROGDI):c.532C>T (p.Arg178Trp)
NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu) rs751703075
NM_024589.3(ROGDI):c.548C>T (p.Ala183Val) rs1306134473
NM_024589.3(ROGDI):c.554C>G (p.Pro185Arg) rs1212858197
NM_024589.3(ROGDI):c.558C>A (p.Ser186=)
NM_024589.3(ROGDI):c.559G>C (p.Asp187His) rs773589345
NM_024589.3(ROGDI):c.562C>G (p.Leu188Val)
NM_024589.3(ROGDI):c.569T>C (p.Val190Ala) rs1567598260
NM_024589.3(ROGDI):c.575T>A (p.Val192Asp)
NM_024589.3(ROGDI):c.577_578delinsAG (p.Tyr193Ser) rs2141906440
NM_024589.3(ROGDI):c.578A>T (p.Tyr193Phe) rs80033521
NM_024589.3(ROGDI):c.580A>G (p.Ile194Val) rs2141906428
NM_024589.3(ROGDI):c.584A>T (p.Asn195Ile) rs201116642
NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe)
NM_024589.3(ROGDI):c.590A>G (p.Asn197Ser) rs1567598164
NM_024589.3(ROGDI):c.595C>T (p.Leu199Phe)
NM_024589.3(ROGDI):c.599G>T (p.Cys200Phe) rs2082676635
NM_024589.3(ROGDI):c.5C>T (p.Ala2Val)
NM_024589.3(ROGDI):c.605C>G (p.Thr202Arg) rs2082676560
NM_024589.3(ROGDI):c.605C>T (p.Thr202Met) rs2082676560
NM_024589.3(ROGDI):c.607G>C (p.Val203Leu)
NM_024589.3(ROGDI):c.616C>G (p.Leu206Val) rs1384897869
NM_024589.3(ROGDI):c.637T>G (p.Ser213Ala)
NM_024589.3(ROGDI):c.63G>C (p.Trp21Cys) rs1335552191
NM_024589.3(ROGDI):c.645+4A>C rs1596274931
NM_024589.3(ROGDI):c.652C>T (p.Arg218Cys) rs1232072886
NM_024589.3(ROGDI):c.653G>A (p.Arg218His) rs747891068
NM_024589.3(ROGDI):c.658G>T (p.Ala220Ser) rs546063670
NM_024589.3(ROGDI):c.661G>A (p.Gly221Arg) rs757872277
NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr) rs756917973
NM_024589.3(ROGDI):c.677A>G (p.His226Arg)
NM_024589.3(ROGDI):c.68T>C (p.Leu23Pro) rs1334307149
NM_024589.3(ROGDI):c.692T>C (p.Met231Thr) rs1437175362
NM_024589.3(ROGDI):c.695+5G>A rs1567597416
NM_024589.3(ROGDI):c.695+6T>C rs2082672876
NM_024589.3(ROGDI):c.695dup (p.Glu233fs)
NM_024589.3(ROGDI):c.700T>G (p.Trp234Gly) rs1252887236
NM_024589.3(ROGDI):c.707C>G (p.Ser236Cys) rs2141905479
NM_024589.3(ROGDI):c.725G>C (p.Ser242Thr) rs774473916
NM_024589.3(ROGDI):c.727C>G (p.His243Asp) rs2082670659
NM_024589.3(ROGDI):c.734A>G (p.His245Arg) rs2082670531
NM_024589.3(ROGDI):c.742G>C (p.Glu248Gln) rs2141905379
NM_024589.3(ROGDI):c.748G>C (p.Val250Leu) rs749565672
NM_024589.3(ROGDI):c.751A>G (p.Ile251Val) rs2082670325
NM_024589.3(ROGDI):c.754C>A (p.Pro252Thr)
NM_024589.3(ROGDI):c.765C>G (p.Asn255Lys) rs144724709
NM_024589.3(ROGDI):c.769G>A (p.Ala257Thr) rs752895075
NM_024589.3(ROGDI):c.76G>C (p.Glu26Gln) rs868321489
NM_024589.3(ROGDI):c.774G>A (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.775_795dup (p.Val259_Leu265dup) rs1567596763
NM_024589.3(ROGDI):c.785C>T (p.Thr262Ile)
NM_024589.3(ROGDI):c.78G>T (p.Glu26Asp) rs145718534
NM_024589.3(ROGDI):c.793C>A (p.Leu265Met) rs746176256
NM_024589.3(ROGDI):c.794T>G (p.Leu265Arg) rs771427647
NM_024589.3(ROGDI):c.805C>T (p.Gln269Ter) rs755209314
NM_024589.3(ROGDI):c.819C>G (p.Asp273Glu) rs762853362
NM_024589.3(ROGDI):c.823-3C>T
NM_024589.3(ROGDI):c.825C>G (p.Ile275Met) rs752311951
NM_024589.3(ROGDI):c.829G>C (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.829G>T (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.82C>T (p.His28Tyr)
NM_024589.3(ROGDI):c.836C>T (p.Ser279Phe) rs765616394
NM_024589.3(ROGDI):c.839G>T (p.Ser280Ile)
NM_024589.3(ROGDI):c.83A>C (p.His28Pro) rs2141915506
NM_024589.3(ROGDI):c.844T>C (p.Trp282Arg)
NM_024589.3(ROGDI):c.856C>G (p.Pro286Ala) rs2082664303
NM_024589.3(ROGDI):c.85G>C (p.Ala29Pro)
NM_024589.3(ROGDI):c.86C>G (p.Ala29Gly)
NM_024589.3(ROGDI):c.86C>T (p.Ala29Val) rs987992601

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