ClinVar Miner

List of variants studied for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.228T>G (p.Cys76Trp)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014

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