List of variants in gene ROGDI reported as likely benign for ectodermal dysplasia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 271

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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.646-6C>T	rs200792197	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+16C>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.127C>T (p.Leu43=)
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.156T>C (p.Thr52=)
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.200+11G>A
NM_024589.3(ROGDI):c.200+19G>C
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.228T>G (p.Thr76=)
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>A
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.256-17C>A
NM_024589.3(ROGDI):c.256-29_256-13dup
NM_024589.3(ROGDI):c.256-7C>T	rs374098348
NM_024589.3(ROGDI):c.261G>C (p.Val87=)
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.337-7C>G	rs1596276645
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+11C>T
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>C
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.46-27_46-18dup
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.528C>A (p.Leu176=)
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.60C>T (p.Arg20=)
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+12C>T
NM_024589.3(ROGDI):c.645+13C>T
NM_024589.3(ROGDI):c.645+14C>T
NM_024589.3(ROGDI):c.645+15C>T
NM_024589.3(ROGDI):c.645+20C>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.646-9T>C
NM_024589.3(ROGDI):c.660T>G (p.Ala220=)
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.687G>T (p.Gly229=)
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+17G>T
NM_024589.3(ROGDI):c.695+7A>G	rs1555490999
NM_024589.3(ROGDI):c.695+9G>A
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>A (p.Leu258=)	rs1253408885
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>G (p.Leu267=)
NM_024589.3(ROGDI):c.801C>T (p.Leu267=)	rs752844190
NM_024589.3(ROGDI):c.822+13C>G
NM_024589.3(ROGDI):c.822+13C>T
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>A
NM_024589.3(ROGDI):c.823-19G>C
NM_024589.3(ROGDI):c.823-20A>G
NM_024589.3(ROGDI):c.823-9C>T
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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