ClinVar Miner

List of variants studied for Myofibromatosis, infantile, 2 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser) rs1486702985

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