ClinVar Miner

List of variants in gene COL4A6 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) rs4623610 0.98777
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) rs1042065 0.74364
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) rs5973851 0.26004
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) rs2295912 0.05171
NM_033641.4(COL4A6):c.4812+8C>T rs73251797 0.05127
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) rs34466065 0.03911
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) rs35179844 0.03732
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) rs34132805 0.03145
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) rs35363062 0.03050
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_033641.4(COL4A6):c.3139-4G>A rs185777707 0.00750
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) rs143895379 0.00169
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_033641.4(COL4A6):c.444G>C (p.Gly148=) rs146748865 0.00041
NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn) rs148636080 0.00025
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) rs138267158 0.00023
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr) rs201355021 0.00022
NM_033641.4(COL4A6):c.1613C>T (p.Ser538Leu) rs775923727 0.00013
NM_033641.4(COL4A6):c.456G>A (p.Gln152=) rs752639069 0.00009
NM_033641.4(COL4A6):c.4525+14C>G rs769785668 0.00006
NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly) rs146828247 0.00004
NM_033641.4(COL4A6):c.1359G>T (p.Glu453Asp) rs762620859 0.00003
NM_033641.4(COL4A6):c.1917A>T (p.Gly639=) rs372811674 0.00003
NM_033641.4(COL4A6):c.4482A>G (p.Leu1494=) rs761409521 0.00003
NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His) rs367690342 0.00003
NM_033641.4(COL4A6):c.4663G>A (p.Val1555Ile) rs908480471 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) rs748867663 0.00001
NM_033641.4(COL4A6):c.604T>C (p.Leu202=) rs754963967 0.00001
NM_033641.4(COL4A6):c.1147C>T (p.Pro383Ser)
NM_033641.4(COL4A6):c.1256T>C (p.Ile419Thr)
NM_033641.4(COL4A6):c.1308A>C (p.Pro436=)
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
NM_033641.4(COL4A6):c.1467C>A (p.Asn489Lys) rs781757715
NM_033641.4(COL4A6):c.1550G>A (p.Arg517Gln)
NM_033641.4(COL4A6):c.1603C>T (p.Leu535=)
NM_033641.4(COL4A6):c.1721C>G (p.Pro574Arg)
NM_033641.4(COL4A6):c.1857A>G (p.Gly619=)
NM_033641.4(COL4A6):c.1986C>T (p.Tyr662=)
NM_033641.4(COL4A6):c.2023+4T>C
NM_033641.4(COL4A6):c.2075G>A (p.Ser692Asn)
NM_033641.4(COL4A6):c.2132-6G>A rs201589060
NM_033641.4(COL4A6):c.2132-6G>T rs201589060
NM_033641.4(COL4A6):c.2223C>T (p.Gly741=)
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
NM_033641.4(COL4A6):c.2361C>T (p.His787=)
NM_033641.4(COL4A6):c.3420A>T (p.Pro1140=)
NM_033641.4(COL4A6):c.3429A>T (p.Pro1143=)
NM_033641.4(COL4A6):c.3553del (p.His1185fs)
NM_033641.4(COL4A6):c.3566-8C>T
NM_033641.4(COL4A6):c.3726C>T (p.Pro1242=)
NM_033641.4(COL4A6):c.3843del (p.Pro1283fs)
NM_033641.4(COL4A6):c.4239C>T (p.Ile1413=)
NM_033641.4(COL4A6):c.4259G>C (p.Ser1420Thr)
NM_033641.4(COL4A6):c.4350A>G (p.Gln1450=)
NM_033641.4(COL4A6):c.4362G>A (p.Gly1454=)
NM_033641.4(COL4A6):c.436C>T (p.Pro146Ser)
NM_033641.4(COL4A6):c.4521C>T (p.Asp1507=)
NM_033641.4(COL4A6):c.780+4G>A

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