ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000091.5(COL4A3):c.2020+18A>C rs374992426 0.00061
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4027+10C>T rs778737711 0.00002
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1315+18G>A
NM_000091.5(COL4A3):c.1316-19T>C
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp) rs2071190170
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala) rs747891356
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His) rs760719817
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
NM_000091.5(COL4A3):c.2489-3C>T
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr) rs2106163548
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2657-15A>C
NM_000091.5(COL4A3):c.2657-6C>T
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser) rs948395447
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3337+3A>G
NM_000091.5(COL4A3):c.3418+15C>T
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3752-14T>C
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
NM_000091.5(COL4A3):c.610-1G>A
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.687+11T>C
NM_000091.5(COL4A3):c.688-11T>C
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala) rs1574699782
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541

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