List of variants in gene NOTCH3 reported as likely pathogenic for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)	rs762734007
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	rs1555730189
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)	rs1599395616
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	rs1555727841
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)	rs2512609711

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