ClinVar Miner

List of variants in gene FBN2 reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.5353+19C>T rs183524866
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.5675-9C>T rs27713
NM_001999.4(FBN2):c.6292+12C>A rs10042349
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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