ClinVar Miner

List of variants reported as uncertain significance for Kindler syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.*2124C>A rs60522800 0.22783
NM_017671.5(FERMT1):c.*2124del rs778361332 0.01322
NM_017671.4(FERMT1):c.-606G>C rs192668028 0.00329
NM_017671.5(FERMT1):c.-189C>A rs533749473 0.00329
NM_017671.5(FERMT1):c.-136C>T rs112748672 0.00317
NM_017671.5(FERMT1):c.*1076C>T rs41282956 0.00311
NM_017671.4(FERMT1):c.-354G>C rs113638444 0.00274
NM_017671.5(FERMT1):c.606_608del (p.Met203del) rs150175364 0.00178
NM_017671.5(FERMT1):c.*1885G>A rs146142837 0.00159
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) rs138986656 0.00159
NM_017671.4(FERMT1):c.-343C>T rs552750238 0.00151
NM_017671.5(FERMT1):c.*1299C>T rs557517529 0.00127
NM_017671.5(FERMT1):c.*638C>T rs183993931 0.00106
NM_017671.5(FERMT1):c.*1338T>G rs541027450 0.00087
NM_017671.5(FERMT1):c.*697G>A rs192292204 0.00082
NM_017671.5(FERMT1):c.*1531G>A rs185563337 0.00080
NM_017671.5(FERMT1):c.*1035C>T rs578179571 0.00056
NM_017671.5(FERMT1):c.*2294T>G rs560038077 0.00045
NM_017671.5(FERMT1):c.*438C>T rs576410071 0.00045
NM_017671.5(FERMT1):c.*1004G>A rs147620065 0.00029
NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr) rs145202913 0.00029
NM_017671.5(FERMT1):c.*1417T>C rs567830651 0.00026
NM_017671.5(FERMT1):c.*932C>T rs781104279 0.00021
NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln) rs202037230 0.00020
NM_017671.5(FERMT1):c.1594-6G>A rs6053893 0.00019
NM_017671.5(FERMT1):c.*960G>A rs770860248 0.00016
NM_017671.5(FERMT1):c.695C>T (p.Ala232Val) rs147864238 0.00016
NM_017671.5(FERMT1):c.*1472G>A rs41282954 0.00011
NM_017671.5(FERMT1):c.978G>A (p.Ser326=) rs201694674 0.00011
NM_017671.5(FERMT1):c.*207C>G rs755160970 0.00010
NM_017671.5(FERMT1):c.64A>G (p.Asn22Asp) rs201029402 0.00010
NM_017671.5(FERMT1):c.*1774G>A rs577291407 0.00008
NM_017671.5(FERMT1):c.-262C>G rs947676466 0.00008
NM_017671.4(FERMT1):c.-777C>T rs895620393 0.00007
NM_017671.5(FERMT1):c.1415C>T (p.Ser472Leu) rs150472152 0.00006
NM_017671.5(FERMT1):c.1599C>T (p.Ala533=) rs774007627 0.00006
NM_017671.5(FERMT1):c.279G>A (p.Gln93=) rs150528781 0.00006
NM_017671.4(FERMT1):c.-692A>G rs772114096 0.00005
NM_017671.5(FERMT1):c.*305C>T rs754192569 0.00004
NM_017671.5(FERMT1):c.*730C>T rs370906888 0.00004
NM_017671.5(FERMT1):c.1795A>C (p.Ile599Leu) rs776020009 0.00004
NM_017671.5(FERMT1):c.*1375G>A rs886056895 0.00003
NM_017671.5(FERMT1):c.*450A>G rs1009430299 0.00003
NM_017671.5(FERMT1):c.-215G>A rs886056901 0.00003
NM_017671.5(FERMT1):c.-244G>A rs1172199651 0.00003
NM_017671.5(FERMT1):c.1115T>G (p.Leu372Arg) rs1294299308 0.00003
NM_017671.5(FERMT1):c.1555G>C (p.Val519Leu) rs371490137 0.00003
NM_017671.5(FERMT1):c.1944C>T (p.Gly648=) rs570732725 0.00003
NM_017671.5(FERMT1):c.533-14C>T rs749711628 0.00003
NM_017671.5(FERMT1):c.*42A>G rs766971644 0.00002
NM_017671.5(FERMT1):c.1648G>A (p.Glu550Lys) rs755090824 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn) rs773618744 0.00002
NM_017671.5(FERMT1):c.713G>A (p.Arg238Gln) rs368612173 0.00002
NM_017671.5(FERMT1):c.780A>G (p.Gln260=) rs754424986 0.00002
NM_017671.5(FERMT1):c.*2068A>G rs886056894 0.00001
NM_017671.5(FERMT1):c.*2073A>T rs867781973 0.00001
NM_017671.5(FERMT1):c.*251C>G rs368493929 0.00001
NM_017671.5(FERMT1):c.*436A>G rs1404070314 0.00001
NM_017671.5(FERMT1):c.*764G>A rs1424957637 0.00001
NM_017671.5(FERMT1):c.*896G>C rs886056897 0.00001
NM_017671.5(FERMT1):c.*908A>G rs1981817098 0.00001
NM_017671.5(FERMT1):c.-109G>T rs1007015742 0.00001
NM_017671.5(FERMT1):c.1074A>G (p.Lys358=) rs758819322 0.00001
NM_017671.5(FERMT1):c.1307T>C (p.Phe436Ser) rs200647657 0.00001
NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn) rs1237569168 0.00001
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) rs184046854 0.00001
NM_017671.5(FERMT1):c.240T>C (p.Tyr80=) rs550863008 0.00001
NM_017671.5(FERMT1):c.52G>A (p.Val18Ile) rs780463226 0.00001
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) rs775613961 0.00001
NM_017671.4(FERMT1):c.-448C>A rs922669115
NM_017671.4(FERMT1):c.-514T>G rs73604924
NM_017671.4(FERMT1):c.-644G>C rs886056902
NM_017671.4(FERMT1):c.-668C>A rs1983344608
NM_017671.4(FERMT1):c.-710G>T rs886056903
NM_017671.4(FERMT1):c.-800C>A rs1346761552
NM_017671.5(FERMT1):c.*1058T>G rs543610282
NM_017671.5(FERMT1):c.*1137T>A rs1981810492
NM_017671.5(FERMT1):c.*174T>A rs565391841
NM_017671.5(FERMT1):c.*1843C>A rs1011868040
NM_017671.5(FERMT1):c.*205C>G rs1981842140
NM_017671.5(FERMT1):c.*2108del rs886056893
NM_017671.5(FERMT1):c.*2123dup rs11405989
NM_017671.5(FERMT1):c.*2124_*2125del rs886056892
NM_017671.5(FERMT1):c.*2127dup rs139990090
NM_017671.5(FERMT1):c.*2221A>G rs1981768610
NM_017671.5(FERMT1):c.*2227C>T rs527535068
NM_017671.5(FERMT1):c.*2250C>T rs886056891
NM_017671.5(FERMT1):c.*951A>G rs886056896
NM_017671.5(FERMT1):c.-116A>G rs886056900
NM_017671.5(FERMT1):c.-154GCC[2] rs536347157
NM_017671.5(FERMT1):c.-93C>G rs557408247
NM_017671.5(FERMT1):c.1045A>C (p.Asn349His) rs886056899
NM_017671.5(FERMT1):c.1371+7A>G rs1982226503
NM_017671.5(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) rs386812146
NM_017671.5(FERMT1):c.1637T>G (p.Met546Arg) rs886056898
NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala) rs755393121
NM_017671.5(FERMT1):c.555A>G (p.Lys185=) rs1982917603
NM_017671.5(FERMT1):c.564C>A (p.Thr188=) rs1982917264
NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly) rs121918293

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.