ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
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.*1365C>A rs550060762
NM_017671.4(FERMT1):c.*1375G>A rs886056895
NM_017671.4(FERMT1):c.*1417T>C rs567830651
NM_017671.4(FERMT1):c.*1458C>T rs149665640
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.*2118A>G rs529395851
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.*2204T>C rs369543395
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.*266A>C rs144550350
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.-154_-152GCC[2] 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.-588C>T rs572613950
NM_017671.4(FERMT1):c.-606G>C rs192668028
NM_017671.4(FERMT1):c.-609G>A rs184246100
NM_017671.4(FERMT1):c.-644G>C rs886056902
NM_017671.4(FERMT1):c.-655C>T rs188963072
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.1416G>A (p.Ser472=) rs148992845
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.1600G>A (p.Ala534Thr) rs2232078
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.1861-8T>C rs2232082
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.747-12G>A rs138474338
NM_017671.4(FERMT1):c.780A>G (p.Gln260=) rs754424986
NM_017671.4(FERMT1):c.834C>T (p.Phe278=) rs775613961

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