List of variants studied for Aortic valve disorder; Adams-Oliver syndrome 5 by Fulgent Genetics,Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)	rs200562991
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)	rs369067940
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)	rs200816814
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)	rs886039138
NM_017617.5(NOTCH1):c.3510+3G>A	rs372739350
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)	rs371068504
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)	rs61751541
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)	rs369915496
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)	rs543770603
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)	rs749490844
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)	rs375897519
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	rs761602495
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)	rs536167222
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)	rs763187824
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)	rs367825691

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