ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_006329.3(FBLN5):c.*326G>A rs79375113
NM_006329.3(FBLN5):c.*329T>C rs115237925
NM_006329.3(FBLN5):c.*514A>G rs17804735
NM_006329.3(FBLN5):c.*623A>T rs77357345
NM_006329.3(FBLN5):c.-152C>T rs139387007
NM_006329.3(FBLN5):c.-414C>T rs7149187
NM_006329.3(FBLN5):c.-458G>A rs369441736
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) rs145515678
NM_006329.3(FBLN5):c.502+15G>C rs190933127
NM_006329.3(FBLN5):c.863-13C>T rs74071606
NM_006329.3(FBLN5):c.945T>C (p.Ile315=) rs2430347
NM_006329.3(FBLN5):c.989+13G>A rs74071605

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