ClinVar Miner

List of variants in gene MFAP5 reported as uncertain significance for 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)	rs139330366	0.00048
NM_003480.4(MFAP5):c.395A>T (p.His132Leu)	rs374890052	0.00002

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