ClinVar Miner

List of variants reported as uncertain significance for Alagille syndrome due to a NOTCH2 point mutation by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430

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