ClinVar Miner

List of variants reported as likely pathogenic for Brain small vessel disease 1 with or without ocular anomalies

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) rs1877889898 0.00001
NM_001845.6(COL4A1):c.*32G>A rs1876439052
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
NM_001845.6(COL4A1):c.1991-2A>G rs2139169623
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) rs1878142219
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) rs1594555106
NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg) rs2139165606
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser) rs2139165584
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2337del (p.Ile780fs) rs2139165506
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) rs1878013473
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg) rs2139164302
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg) rs2139164265
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu) rs1877963897
NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)
NM_001845.6(COL4A1):c.2753del (p.Gly918fs)
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) rs1555303073
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg) rs2139162955
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp) rs2139162750
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser) rs2139162416
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp) rs2139160332
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) rs1877796592
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) rs1877701802
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu) rs2139154591
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903
NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001845.6(COL4A1):c.4022-1G>A rs2139149392
NM_001845.6(COL4A1):c.4178G>A (p.Gly1393Glu)
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)
NM_001845.6(COL4A1):c.4250-2A>C rs2139146303
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)

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