ClinVar Miner

List of variants in gene FBLN1 studied for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg) rs136730 0.99862
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr) rs142867241 0.00691
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His) rs146772136 0.00025
NM_006486.3(FBLN1):c.1489C>T (p.Arg497Cys)
NM_006486.3(FBLN1):c.1949G>A (p.Arg650His)
NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln) rs1017133697
NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg)
NM_006486.3(FBLN1):c.963C>T (p.Ile321=) rs9682

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