ClinVar Miner

List of variants in gene FBLN5 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_006329.3(FBLN5):c.*423T>C rs17731705
NM_006329.3(FBLN5):c.*647C>T rs10197
NM_006329.3(FBLN5):c.-411A>G rs143296045
NM_006329.3(FBLN5):c.-57G>A rs546827390
NM_006329.3(FBLN5):c.1113G>A (p.Thr371=) rs560780691
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006329.3(FBLN5):c.621T>C (p.Asp207=) rs200178859
NM_006329.3(FBLN5):c.714T>A (p.Leu238=) rs141152607

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