ClinVar Miner

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

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ClinVar version:
Total variants: 99
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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

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