ClinVar Miner

List of variants in gene COL4A1 reported as likely pathogenic

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Total variants: 30
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HGVS dbSNP
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) rs1555305682
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517
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.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val)
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu) rs1085307568
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val) rs1085307982
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu) rs1085307907
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val) rs1555302449
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp) rs1057518100
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719

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