ClinVar Miner

List of variants reported as pathogenic for Alagille syndrome due to a NOTCH2 point mutation by GeneReviews

Included ClinVar conditions (2):
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Total variants: 10
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NM_024408.4(NOTCH2):c.1117T>C (p.Cys373Arg) rs312262793
NM_024408.4(NOTCH2):c.1147C>T (p.Pro383Ser) rs312262795
NM_024408.4(NOTCH2):c.1180C>T (p.Pro394Ser) rs312262794
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.1438T>C (p.Cys480Arg) rs312262799
NM_024408.4(NOTCH2):c.2564_2565AG[1] (p.Ser856fs) rs312262800
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801

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