ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001845.6(COL4A1):c.4640+16G>A rs2275842 0.14797
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.1991-16G>A rs72654112 0.10351
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.3877-30C>A rs367688295 0.00006
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.808-7C>G rs9588116

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