ClinVar Miner

List of variants in gene FKRP reported as uncertain significance for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu)
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1236C>G (p.His412Gln)
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) rs759539583
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr) rs1060502111
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.386T>A (p.Val129Glu)
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser) rs1555738380
NM_024301.5(FKRP):c.430A>G (p.Met144Val) rs1568418007
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.466G>A (p.Val156Met) rs765402738
NM_024301.5(FKRP):c.477G>A (p.Pro159=)
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp) rs1555738521
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) rs1568418289
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) rs1308459613
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) rs1568418509
NM_024301.5(FKRP):c.608G>A (p.Arg203His) rs1568418540
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr) rs764621521
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378
NM_024301.5(FKRP):c.640C>G (p.Leu214Val)
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg) rs528000488
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) rs1060502107
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser) rs1555738797
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458

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