ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000090.4(COL3A1):c.3008T>C (p.Leu1003Pro) rs1553509307
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781

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