ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) rs1594568948
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) rs606231464
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2194-1G>A rs606231465
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2458+1G>C rs1878012979
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) rs1877962670
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3407-2del rs2139159594
NM_001845.6(COL4A1):c.3556+54_3877-1090del
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007
NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu) rs2139154554
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) rs1876543576
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) rs542803991
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)

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