List of variants in gene TINF2 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: 150

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)	rs117234138	0.00329
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)	rs189265179	0.00163
NM_001099274.3(TINF2):c.771C>T (p.His257=)	rs75124018	0.00106
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	rs199422321	0.00077
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	rs142777869	0.00034
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=)	rs374320783	0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	rs192423622	0.00030
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)	rs201083863	0.00024
NM_001099274.3(TINF2):c.520C>T (p.Leu174=)	rs374116388	0.00013
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)	rs200990844	0.00011
NM_001099274.3(TINF2):c.492A>G (p.Thr164=)	rs781353658	0.00011
NM_001099274.3(TINF2):c.1302C>T (p.His434=)	rs568909774	0.00008
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	rs369249473	0.00008
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=)	rs199597631	0.00006
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)	rs765992492	0.00005
NM_001099274.3(TINF2):c.*33C>T	rs777445803	0.00004
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	rs779819186	0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=)	rs773958161	0.00004
NM_001099274.3(TINF2):c.690C>G (p.Pro230=)	rs764260132	0.00004
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met)	rs552794694	0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=)	rs376845893	0.00004
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg)	rs763867083	0.00003
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=)	rs755970077	0.00003
NM_001099274.3(TINF2):c.210C>T (p.Ile70=)	rs749135301	0.00003
NM_001099274.3(TINF2):c.504G>A (p.Gln168=)	rs764829839	0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=)	rs757222975	0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=)	rs776136324	0.00003
NM_001099274.3(TINF2):c.1130-10C>T	rs762697610	0.00002
NM_001099274.3(TINF2):c.399+12T>C	rs1261166783	0.00002
NM_001099274.3(TINF2):c.411A>G (p.Gln137=)	rs1180442127	0.00002
NM_001099274.3(TINF2):c.507+14A>G	rs888526948	0.00002
NM_001099274.3(TINF2):c.861G>C (p.Leu287=)	rs770236773	0.00002
NM_001099274.3(TINF2):c.879C>T (p.Leu293=)	rs1475173024	0.00002
NM_001099274.3(TINF2):c.960A>C (p.Thr320=)	rs1002974518	0.00002
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=)	rs1295609085	0.00001
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=)	rs948013496	0.00001
NM_001099274.3(TINF2):c.1222-5T>G	rs763885098	0.00001
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=)	rs750447210	0.00001
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=)	rs1414894689	0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=)	rs1374640214	0.00001
NM_001099274.3(TINF2):c.400-4G>A	rs1566368389	0.00001
NM_001099274.3(TINF2):c.45C>T (p.Ala15=)	rs750285418	0.00001
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=)	rs778034325	0.00001
NM_001099274.3(TINF2):c.508-19C>T	rs750306834	0.00001
NM_001099274.3(TINF2):c.684C>T (p.His228=)	rs370555134	0.00001
NM_001099274.3(TINF2):c.759A>G (p.Leu253=)	rs1456646494	0.00001
NM_001099274.3(TINF2):c.765C>A (p.Gly255=)	rs1171794268	0.00001
NM_001099274.3(TINF2):c.783C>A (p.Ala261=)	rs1468911267	0.00001
NM_001099274.3(TINF2):c.930G>A (p.Ala310=)	rs778877023	0.00001
NM_001099274.3(TINF2):c.1011A>T (p.Gly337=)
NM_001099274.3(TINF2):c.1023G>A (p.Lys341=)
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
NM_001099274.3(TINF2):c.1061+14A>G	rs1040503982
NM_001099274.3(TINF2):c.1061+8_1061+9del
NM_001099274.3(TINF2):c.1062-14_1062-11del	rs2138996774
NM_001099274.3(TINF2):c.1062-19_1062-18del
NM_001099274.3(TINF2):c.1062-4T>G	rs769661599
NM_001099274.3(TINF2):c.1102T>C (p.Leu368=)
NM_001099274.3(TINF2):c.1130-11C>T
NM_001099274.3(TINF2):c.1130-15G>A
NM_001099274.3(TINF2):c.1130-7C>T
NM_001099274.3(TINF2):c.1164C>T (p.Thr388=)
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=)	rs2040535359
NM_001099274.3(TINF2):c.1197A>G (p.Glu399=)
NM_001099274.3(TINF2):c.1221+11del
NM_001099274.3(TINF2):c.1221+14A>C	rs776525717
NM_001099274.3(TINF2):c.1221+15G>A
NM_001099274.3(TINF2):c.1222-11del	rs746206409
NM_001099274.3(TINF2):c.1222-19C>G
NM_001099274.3(TINF2):c.1222-4A>T	rs2138994887
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=)	rs777077289
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=)	rs777077289
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=)	rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=)	rs780647966
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=)	rs201083863
NM_001099274.3(TINF2):c.1308C>T (p.Ala436=)
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
NM_001099274.3(TINF2):c.193-7C>T
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
NM_001099274.3(TINF2):c.261T>C (p.Phe87=)
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
NM_001099274.3(TINF2):c.294G>A (p.Lys98=)	rs1594555123
NM_001099274.3(TINF2):c.297+10C>T	rs775877509
NM_001099274.3(TINF2):c.297+13C>T
NM_001099274.3(TINF2):c.297+14G>A
NM_001099274.3(TINF2):c.297+18C>A
NM_001099274.3(TINF2):c.297+18C>G
NM_001099274.3(TINF2):c.298-10T>A	rs1317116989
NM_001099274.3(TINF2):c.298-15C>T
NM_001099274.3(TINF2):c.298-19T>C
NM_001099274.3(TINF2):c.363G>C (p.Leu121=)
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
NM_001099274.3(TINF2):c.393G>A (p.Lys131=)	rs1373380506
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
NM_001099274.3(TINF2):c.399+8T>C
NM_001099274.3(TINF2):c.399+9G>C
NM_001099274.3(TINF2):c.400-10C>T	rs2139001198
NM_001099274.3(TINF2):c.400-11C>G
NM_001099274.3(TINF2):c.400-12C>T
NM_001099274.3(TINF2):c.400-17A>C	rs1182153400
NM_001099274.3(TINF2):c.400-5del	rs769170035
NM_001099274.3(TINF2):c.400-6C>T
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
NM_001099274.3(TINF2):c.426C>T (p.Pro142=)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=)	rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
NM_001099274.3(TINF2):c.45C>G (p.Ala15=)	rs750285418
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
NM_001099274.3(TINF2):c.507+13del	rs780404631
NM_001099274.3(TINF2):c.507+20T>C
NM_001099274.3(TINF2):c.508-10C>T
NM_001099274.3(TINF2):c.508-15T>C	rs2139000398
NM_001099274.3(TINF2):c.508-18C>T	rs780585800
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
NM_001099274.3(TINF2):c.540A>C (p.Gly180=)
NM_001099274.3(TINF2):c.552C>G (p.Thr184=)
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
NM_001099274.3(TINF2):c.604+10A>G
NM_001099274.3(TINF2):c.604+13T>C
NM_001099274.3(TINF2):c.604+15G>A
NM_001099274.3(TINF2):c.605-17C>T
NM_001099274.3(TINF2):c.605-20G>A
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
NM_001099274.3(TINF2):c.678A>G (p.Ala226=)
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
NM_001099274.3(TINF2):c.747C>T (p.His249=)
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
NM_001099274.3(TINF2):c.822C>T (p.Ser274=)
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
NM_001099274.3(TINF2):c.837T>C (p.His279=)
NM_001099274.3(TINF2):c.864T>C (p.Phe288=)	rs2138998003
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
NM_001099274.3(TINF2):c.891C>T (p.Thr297=)
NM_001099274.3(TINF2):c.945C>T (p.Asp315=)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
NM_001099274.3(TINF2):c.984T>C (p.Ser328=)	rs751773020
NM_001099274.3(TINF2):c.9G>A (p.Thr3=)	rs748683638
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.