ClinVar Miner

List of variants in gene FERMT1 studied for Kindler syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 135
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HGVS dbSNP
FERMT1, IVS3DS, T-C, +2
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.*1155T>C rs6139909
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.*1464C>T rs1059391
NM_017671.4(FERMT1):c.*1472G>A rs41282954
NM_017671.4(FERMT1):c.*1777dup rs397756084
NM_017671.4(FERMT1):c.*193C>T rs16991740
NM_017671.4(FERMT1):c.*194G>A rs114990723
NM_017671.4(FERMT1):c.*2016T>A rs6117066
NM_017671.4(FERMT1):c.*2058C>T rs12945
NM_017671.4(FERMT1):c.*2068A>G rs886056894
NM_017671.4(FERMT1):c.*2069T>C rs1059396
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.*2124delC 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.*72G>T rs2232084
NM_017671.4(FERMT1):c.*730C>T rs370906888
NM_017671.4(FERMT1):c.*896G>C rs886056897
NM_017671.4(FERMT1):c.*902A>G rs6053878
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.-105C>G rs6139922
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.-18-11T>G rs2273423
NM_017671.4(FERMT1):c.-185A>G rs2281532
NM_017671.4(FERMT1):c.-189C>A rs533749473
NM_017671.4(FERMT1):c.-20A>G rs869312722
NM_017671.4(FERMT1):c.-215G>A rs886056901
NM_017671.4(FERMT1):c.-28T>C rs7273551
NM_017671.4(FERMT1):c.-301C>T rs116782539
NM_017671.4(FERMT1):c.-343C>T rs552750238
NM_017671.4(FERMT1):c.-354G>C rs113638444
NM_017671.4(FERMT1):c.-366C>G rs2281533
NM_017671.4(FERMT1):c.-456C>A rs80350329
NM_017671.4(FERMT1):c.-514T>C rs73604924
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.-646G>C rs2295432
NM_017671.4(FERMT1):c.-655C>T rs188963072
NM_017671.4(FERMT1):c.-666G>A rs2295433
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.0_-19+470del
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.1139+2T>C rs869312727
NM_017671.4(FERMT1):c.1139+740G>A rs869312728
NM_017671.4(FERMT1):c.114T>C (p.His38=) rs10373
NM_017671.4(FERMT1):c.1153C>T (p.Leu385=) rs35413391
NM_017671.4(FERMT1):c.1161del (p.Ala388fs) rs869312729
NM_017671.4(FERMT1):c.1176T>G (p.Tyr392Ter) rs869312730
NM_017671.4(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.4(FERMT1):c.1264+14A>G rs111975159
NM_017671.4(FERMT1):c.1383C>A (p.Tyr461Ter) rs142328166
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.152-4G>A rs2295435
NM_017671.4(FERMT1):c.1555G>C (p.Val519Leu) rs371490137
NM_017671.4(FERMT1):c.1575A>G (p.Lys525=) rs2232073
NM_017671.4(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) rs386812146
NM_017671.4(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074
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.1674G>A (p.Ala558=) rs2232079
NM_017671.4(FERMT1):c.1675T>C (p.Trp559Arg) rs869312719
NM_017671.4(FERMT1):c.1695T>C (p.Phe565=) rs753927
NM_017671.4(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.4(FERMT1):c.1795A>C (p.Ile599Leu) rs776020009
NM_017671.4(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_017671.4(FERMT1):c.1861-8T>C rs2232082
NM_017671.4(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.4(FERMT1):c.1884C>T (p.Asn628=) rs2232083
NM_017671.4(FERMT1):c.1944C>T (p.Gly648=) rs570732725
NM_017671.4(FERMT1):c.211C>T (p.Leu71=) rs1056141
NM_017671.4(FERMT1):c.234C>T (p.Asp78=) rs57272794
NM_017671.4(FERMT1):c.240T>C (p.Tyr80=) rs550863008
NM_017671.4(FERMT1):c.299_301del (p.Arg100del) rs869312720
NM_017671.4(FERMT1):c.373del (p.Cys125fs) rs869312723
NM_017671.4(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.4(FERMT1):c.467A>G (p.Asn156Ser) rs138019177
NM_017671.4(FERMT1):c.479T>C (p.Ile160Thr) rs16991866
NM_017671.4(FERMT1):c.52G>A (p.Val18Ile) rs780463226
NM_017671.4(FERMT1):c.532+8T>C rs41308641
NM_017671.4(FERMT1):c.550dup (p.Ser184fs) rs869312724
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.676dup (p.Gln226fs) rs748240859
NM_017671.4(FERMT1):c.695C>T (p.Ala232Val) rs147864238
NM_017671.4(FERMT1):c.722T>C (p.Val241Ala) rs55666319
NM_017671.4(FERMT1):c.747-12G>A rs138474338
NM_017671.4(FERMT1):c.763C>T (p.Arg255Cys) rs62200482
NM_017671.4(FERMT1):c.780A>G (p.Gln260=) rs754424986
NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter) rs121918293
NM_017671.4(FERMT1):c.834C>T (p.Phe278=) rs775613961
NM_017671.4(FERMT1):c.850-272_1139+53del
NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter) rs121918294
NM_017671.4(FERMT1):c.889A>G (p.Arg297Gly) rs779612399
NM_017671.4(FERMT1):c.910G>T (p.Glu304Ter) rs146180696
NM_017671.4(FERMT1):c.957+1G>A rs869312725
NM_017671.4(FERMT1):c.958-1G>A rs869312726
NM_017671.4(FERMT1):c.992_993CA[1] (p.Gln332fs) rs866141540
NM_017671.4:c.676insC
g.6109607_6112272del
g.6116239_6120157del

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