List of variants reported for Aortic valve disease 2 by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu)	rs764453720	0.00003
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)	rs1208514129
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)	rs766270982
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)	rs2545312590
NM_005585.5(SMAD6):c.818-1G>A	rs952876781
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)	rs2140596481

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