List of variants studied for Aortic valve disease 2; Craniosynostosis 7

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.336C>A (p.Gly112=)	rs371330988	0.00114
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe)	rs200374822	0.00019
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala)	rs1049275389	0.00004
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)	rs769605183
NM_005585.5(SMAD6):c.952+13del	rs761315842

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