ClinVar Miner

List of variants in gene combination LOC126861443, MFAP5 reported as uncertain significance for aortic aneurysm, familial thoracic 9

Included ClinVar conditions (1):

Aortic aneurysm, familial thoracic 9

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	rs727502791	0.00004
NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)	rs1002670480

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