ClinVar Miner

List of variants in gene FBLN5 reported as benign for age-related macular degeneration

Included ClinVar conditions (40):
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_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002

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