ClinVar Miner

List of variants in gene NOTCH3 reported as pathogenic by Mendelics

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Gene type:
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Total variants: 2
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014

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