ClinVar Miner

List of variants in gene MFAP5 reported as pathogenic for Aortic aneurysm, familial thoracic 9

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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.62G>T (p.Trp21Leu)	rs724159961	0.00006
NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)	rs1942169361

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