ClinVar Miner

List of variants in gene CFL2 reported as benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_138638.5(CFL2):c.*1682A>T rs712301 0.46053
NM_138638.5(CFL2):c.*285A>G rs9789 0.27894
NM_138638.5(CFL2):c.*2038G>T rs9491 0.24886
NM_138638.5(CFL2):c.*925T>C rs11539496 0.24877
NM_138638.5(CFL2):c.*1905A>G rs41528946 0.03033
NM_138638.5(CFL2):c.*409T>G rs116651711 0.01734
NM_138638.5(CFL2):c.*35C>T rs115050412 0.01172
NM_138638.5(CFL2):c.21G>A (p.Val7=) rs149700171 0.00104
NM_138638.5(CFL2):c.15T>C (p.Val5=) rs542840152 0.00001
NM_138638.5(CFL2):c.312-18dup rs35515423
NM_138638.5(CFL2):c.312-7del rs35515423
NM_138638.5(CFL2):c.312-8_312-7del rs35515423

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