ClinVar Miner

List of variants in gene COL4A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001845.6(COL4A1):c.1494C>T (p.Gly498=) rs149046219 0.00073
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00068
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser) rs578161281 0.00042
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001845.6(COL4A1):c.966G>A (p.Lys322=) rs372969177 0.00026
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.1000-8C>T rs199822852 0.00003
NM_001845.6(COL4A1):c.4407C>T (p.His1469=) rs149068853 0.00003
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu) rs75885959 0.00003
NM_001845.6(COL4A1):c.852A>G (p.Gly284=) rs1440967031 0.00002
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=) rs190097900 0.00001
NM_001845.6(COL4A1):c.4851C>T (p.His1617=) rs748558670 0.00001
NC_000013.11:g.110145211C>T
NM_001845.6(COL4A1):c.1023A>G (p.Gly341=)
NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=) rs1594566831
NM_001845.6(COL4A1):c.1536+595C>T
NM_001845.6(COL4A1):c.2095+7C>T
NM_001845.6(COL4A1):c.2096-3C>T
NM_001845.6(COL4A1):c.2520C>T (p.Gly840=)
NM_001845.6(COL4A1):c.2658C>T (p.Thr886=) rs2139163970
NM_001845.6(COL4A1):c.2969-10A>G
NM_001845.6(COL4A1):c.2969-7del
NM_001845.6(COL4A1):c.3059-7T>C
NM_001845.6(COL4A1):c.3198+9C>T
NM_001845.6(COL4A1):c.3325+8del
NM_001845.6(COL4A1):c.3505+7C>G
NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)
NM_001845.6(COL4A1):c.384A>G (p.Thr128=)
NM_001845.6(COL4A1):c.3876+9T>C
NM_001845.6(COL4A1):c.3877-23C>G
NM_001845.6(COL4A1):c.3877-39T>C
NM_001845.6(COL4A1):c.388-10G>A
NM_001845.6(COL4A1):c.388-10G>C
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4041C>A (p.Gly1347=)
NM_001845.6(COL4A1):c.4150+9G>C
NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=) rs769089749
NM_001845.6(COL4A1):c.4377G>A (p.Gln1459=)
NM_001845.6(COL4A1):c.4494C>T (p.Ser1498=)
NM_001845.6(COL4A1):c.468+5A>C
NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.495T>C (p.His165=)
NM_001845.6(COL4A1):c.4974C>T (p.His1658=)
NM_001845.6(COL4A1):c.822C>T (p.Val274=)
NM_001845.6(COL4A1):c.84+9C>G rs772306069
NM_001845.6(COL4A1):c.903+6T>C
NM_001845.6(COL4A1):c.958-9del

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