ClinVar Miner

List of variants in gene FKRP reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_024301.5(FKRP):c.-40+86G>C rs190592996 0.00852
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_024301.5(FKRP):c.-252-125G>A rs116768910 0.00394
NM_024301.5(FKRP):c.-39-243A>G rs184686014 0.00384
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_024301.5(FKRP):c.-246A>G rs181509391 0.00055
NM_024301.5(FKRP):c.717C>T (p.Thr239=) rs762375285 0.00023
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638 0.00007
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962 0.00004
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) rs779487099 0.00002
NM_024301.5(FKRP):c.-206G>T rs1263835324 0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541 0.00001
NM_024301.5(FKRP):c.780G>A (p.Glu260=) rs1414659732 0.00001
NM_024301.5(FKRP):c.975C>T (p.Thr325=) rs1479437011 0.00001
NM_024301.5(FKRP):c.-39-205dup rs5828285
NM_024301.5(FKRP):c.-39-206_-39-205del rs5828285
NM_024301.5(FKRP):c.321C>T (p.Ala107=) rs1599934722
NM_024301.5(FKRP):c.345G>A (p.Ser115=) rs1356142931
NM_024301.5(FKRP):c.375T>C (p.Phe125=) rs1599934927
NM_024301.5(FKRP):c.456C>T (p.Ser152=) rs199714523
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846

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.