ClinVar Miner

List of variants in gene NOTCH2 reported as pathogenic for Alagille syndrome due to a NOTCH2 point mutation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422 0.00001
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr) rs1649084282

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