List of variants reported as uncertain significance for Aortic valve disease 1 by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)	rs200099319	0.00147
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)	rs537210445	0.00021
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)	rs200521815	0.00010
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.1256-15G>A	rs200086842	0.00002
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)	rs773571672	0.00001
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)	rs1843316084
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)	rs1843150410
NM_017617.5(NOTCH1):c.4583_4586+2dup
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)	rs750185397
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)
NM_017617.5(NOTCH1):c.928G>A (p.Gly310Arg)

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