List of variants in gene MFAP5 studied for Aortic aneurysm, familial thoracic 9

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003480.4(MFAP5):c.172+5A>G	rs11046589	0.42157
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)	rs4132450	0.00272
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)	rs139330366	0.00048
NM_003480.4(MFAP5):c.195T>A (p.Ile65=)	rs146558268	0.00016
NM_003480.4(MFAP5):c.62G>T (p.Trp21Leu)	rs724159961	0.00006
NM_003480.4(MFAP5):c.94+18T>G	rs766176657	0.00006
NM_003480.4(MFAP5):c.395A>T (p.His132Leu)	rs374890052	0.00002
NM_003480.4(MFAP5):c.264del (p.Lys88fs)
NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)	rs1942169361

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