ClinVar Miner

List of variants in gene FERMT1 reported as uncertain significance for Kindler's syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP
NC_000020.11:g.6123203G>T rs0
NC_000020.11:g.6123423G>T rs0
NC_000020.11:g.6123532G>A rs0
NC_000020.11:g.6123555G>T rs0
NM_017671.4(FERMT1):c.*1004G>A rs147620065
NM_017671.4(FERMT1):c.*1035C>T rs578179571
NM_017671.4(FERMT1):c.*1076C>T rs41282956
NM_017671.4(FERMT1):c.*1299C>T rs557517529
NM_017671.4(FERMT1):c.*1375G>A rs886056895
NM_017671.4(FERMT1):c.*1417T>C rs567830651
NM_017671.4(FERMT1):c.*1472G>A rs41282954
NM_017671.4(FERMT1):c.*2068A>G rs886056894
NM_017671.4(FERMT1):c.*2073A>T rs867781973
NM_017671.4(FERMT1):c.*207C>G rs755160970
NM_017671.4(FERMT1):c.*2108del rs886056893
NM_017671.4(FERMT1):c.*2123dup rs11405989
NM_017671.4(FERMT1):c.*2124_*2125del rs886056892
NM_017671.4(FERMT1):c.*2124del rs778361332
NM_017671.4(FERMT1):c.*2127dup rs139990090
NM_017671.4(FERMT1):c.*2227C>T rs527535068
NM_017671.4(FERMT1):c.*2250C>T rs886056891
NM_017671.4(FERMT1):c.*2294T>G rs560038077
NM_017671.4(FERMT1):c.*251C>G rs368493929
NM_017671.4(FERMT1):c.*42A>G rs766971644
NM_017671.4(FERMT1):c.*438C>T rs576410071
NM_017671.4(FERMT1):c.*697G>A rs192292204
NM_017671.4(FERMT1):c.*730C>T rs370906888
NM_017671.4(FERMT1):c.*896G>C rs886056897
NM_017671.4(FERMT1):c.*932C>T rs781104279
NM_017671.4(FERMT1):c.*951A>G rs886056896
NM_017671.4(FERMT1):c.*960G>A rs770860248
NM_017671.4(FERMT1):c.-116A>G rs886056900
NM_017671.4(FERMT1):c.-136C>T rs112748672
NM_017671.4(FERMT1):c.-148_-146delGCC rs536347157
NM_017671.4(FERMT1):c.-189C>A rs533749473
NM_017671.4(FERMT1):c.-215G>A rs886056901
NM_017671.4(FERMT1):c.-343C>T rs552750238
NM_017671.4(FERMT1):c.-354G>C rs113638444
NM_017671.4(FERMT1):c.-514T>G rs73604924
NM_017671.4(FERMT1):c.-606G>C rs192668028
NM_017671.4(FERMT1):c.-644G>C rs886056902
NM_017671.4(FERMT1):c.-692A>G rs772114096
NM_017671.4(FERMT1):c.-710G>T rs886056903
NM_017671.4(FERMT1):c.-93C>G rs557408247
NM_017671.4(FERMT1):c.1014C>T (p.Ser338=) rs138986656
NM_017671.4(FERMT1):c.1045A>C (p.Asn349His) rs886056899
NM_017671.4(FERMT1):c.1074A>G (p.Lys358=) rs758819322
NM_017671.4(FERMT1):c.1415C>T (p.Ser472Leu) rs150472152
NM_017671.4(FERMT1):c.1555G>C (p.Val519Leu) rs371490137
NM_017671.4(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) rs386812146
NM_017671.4(FERMT1):c.1594-6G>A rs6053893
NM_017671.4(FERMT1):c.1637T>G (p.Met546Arg) rs886056898
NM_017671.4(FERMT1):c.1795A>C (p.Ile599Leu) rs776020009
NM_017671.4(FERMT1):c.1944C>T (p.Gly648=) rs570732725
NM_017671.4(FERMT1):c.240T>C (p.Tyr80=) rs550863008
NM_017671.4(FERMT1):c.52G>A (p.Val18Ile) rs780463226
NM_017671.4(FERMT1):c.606_608del (p.Met203del) rs150175364
NM_017671.4(FERMT1):c.64A>G (p.Asn22Asp) rs201029402
NM_017671.4(FERMT1):c.695C>T (p.Ala232Val) rs147864238
NM_017671.4(FERMT1):c.780A>G (p.Gln260=) rs754424986
NM_017671.4(FERMT1):c.834C>T (p.Phe278=) rs775613961
NM_017671.5(FERMT1):c.*1058T>G rs0
NM_017671.5(FERMT1):c.*1137T>A rs0
NM_017671.5(FERMT1):c.*1338T>G rs0
NM_017671.5(FERMT1):c.*1531G>A rs0
NM_017671.5(FERMT1):c.*174T>A rs0
NM_017671.5(FERMT1):c.*1774G>A rs0
NM_017671.5(FERMT1):c.*1843C>A rs0
NM_017671.5(FERMT1):c.*1885G>A rs0
NM_017671.5(FERMT1):c.*205C>G rs0
NM_017671.5(FERMT1):c.*2124C>A rs0
NM_017671.5(FERMT1):c.*2221A>G rs0
NM_017671.5(FERMT1):c.*305C>T rs0
NM_017671.5(FERMT1):c.*436A>G rs0
NM_017671.5(FERMT1):c.*450A>G rs0
NM_017671.5(FERMT1):c.*638C>T rs0
NM_017671.5(FERMT1):c.*764G>A rs0
NM_017671.5(FERMT1):c.*908A>G rs0
NM_017671.5(FERMT1):c.-109G>T rs0
NM_017671.5(FERMT1):c.-244G>A rs0
NM_017671.5(FERMT1):c.-262C>G rs0
NM_017671.5(FERMT1):c.1115T>G (p.Leu372Arg) rs0
NM_017671.5(FERMT1):c.1307T>C (p.Phe436Ser) rs0
NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn) rs0
NM_017671.5(FERMT1):c.1371+7A>G rs0
NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr) rs0
NM_017671.5(FERMT1):c.1599C>T (p.Ala533=) rs0
NM_017671.5(FERMT1):c.1648G>A (p.Glu550Lys) rs0
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) rs0
NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn) rs0
NM_017671.5(FERMT1):c.279G>A (p.Gln93=) rs0
NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala) rs0
NM_017671.5(FERMT1):c.533-14C>T rs0
NM_017671.5(FERMT1):c.555A>G (p.Lys185=) rs0
NM_017671.5(FERMT1):c.564C>A (p.Thr188=) rs0
NM_017671.5(FERMT1):c.713G>A (p.Arg238Gln) rs0
NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly) rs0
NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln) rs0
NM_017671.5(FERMT1):c.978G>A (p.Ser326=) rs0

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.