List of variants reported as likely benign for Alagille syndrome due to a NOTCH2 point mutation

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser)	rs782113557	0.00218
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)	rs148613210	0.00004
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)	rs1553195867	0.00001
NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val)	rs200646249

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