ClinVar Miner

Variants in gene FKRP with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
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.1177G>A (p.Val393Ile) rs140679502 0.00150
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.1154C>T (p.Ser385Leu) rs104894680 0.00086
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.531G>A (p.Glu177=) rs768007208 0.00057
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
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.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024301.5(FKRP):c.-2C>A rs781231882 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092

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