List of variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by 3billion

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Total variants: 16

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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.1595G>A (p.Arg532His)	rs749628786	0.00001
NM_000435.3(NOTCH3):c.1478G>C (p.Cys493Ser)	rs2145434878
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	rs1555730189
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)	rs2145433361
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)	rs758997426
NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=)	rs369579579
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)	rs145069047
NM_000435.3(NOTCH3):c.3545G>A (p.Cys1182Tyr)	rs1599380389
NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu)	rs151016108
NM_000435.3(NOTCH3):c.403T>C (p.Ser135Pro)	rs2145442354
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	rs1174625611
NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe)	rs2046928618

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