ClinVar Miner

List of variants studied for Myofibromatosis, infantile, 2

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Total variants: 5
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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.214G>A (p.Val72Met) rs2046938247 0.00001
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000435.3(NOTCH3):c.5114+11T>G rs2046721049

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