ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024301.5(FKRP):c.-39-16C>T rs115257841 0.00333
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.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
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.-39-15G>A rs531709071 0.00052
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_024301.5(FKRP):c.-30G>A rs765025603 0.00010
NM_024301.5(FKRP):c.1317G>A (p.Val439=) rs757615255 0.00002
NM_024301.5(FKRP):c.573C>T (p.Cys191=) rs763156437 0.00002
NM_024301.5(FKRP):c.-197C>T rs941872245 0.00001
NM_024301.5(FKRP):c.-2C>A rs781231882 0.00001
NM_024301.5(FKRP):c.1176C>T (p.Phe392=) rs768236258 0.00001
NM_024301.5(FKRP):c.399G>T (p.Ala133=) rs1057524539 0.00001
NM_024301.5(FKRP):c.486G>A (p.Thr162=) rs773481816 0.00001
NM_024301.5(FKRP):c.621C>T (p.Leu207=) rs1057522134 0.00001
NM_024301.5(FKRP):c.66C>T (p.Phe22=) rs995818740 0.00001
NM_024301.5(FKRP):c.741G>A (p.Pro247=) rs1488332243 0.00001
NM_024301.5(FKRP):c.-195A>G rs1057523991
NM_024301.5(FKRP):c.-52_-50del rs36215246
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.1191G>T (p.Ala397=) rs752767486
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
NM_024301.5(FKRP):c.33G>C (p.Ala11=) rs786205520
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.651G>A (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846

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