ClinVar Miner

List of variants reported as pathogenic for Alagille syndrome 2

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Total variants: 4
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NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798

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