ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00020
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His) rs144950610 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00004
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415 0.00004
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln) rs147361934 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.2968+3A>G rs1455733602 0.00002
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser) rs777678272 0.00002
NM_001845.6(COL4A1):c.115T>C (p.Cys39Arg) rs1476577463 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg) rs779129339 0.00001
NM_001845.6(COL4A1):c.3917A>T (p.Asp1306Val) rs1024592088 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu) rs1057518459 0.00001
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr) rs991189007 0.00001
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His) rs775952266 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4888A>T (p.Ser1630Cys) rs1185307528 0.00001
NM_001845.6(COL4A1):c.1019T>C (p.Leu340Ser) rs2139191610
NM_001845.6(COL4A1):c.1085G>A (p.Gly362Asp) rs2139190267
NM_001845.6(COL4A1):c.1127C>T (p.Pro376Leu)
NM_001845.6(COL4A1):c.1285+3del rs2139187206
NM_001845.6(COL4A1):c.160C>T (p.Pro54Ser)
NM_001845.6(COL4A1):c.175G>A (p.Val59Ile)
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His) rs369724575
NM_001845.6(COL4A1):c.1837C>T (p.Pro613Ser)
NM_001845.6(COL4A1):c.1868C>T (p.Pro623Leu) rs1555304107
NM_001845.6(COL4A1):c.1886C>G (p.Pro629Arg) rs2139173188
NM_001845.6(COL4A1):c.1900C>T (p.Pro634Ser) rs908568872
NM_001845.6(COL4A1):c.1979C>A (p.Pro660Gln)
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
NM_001845.6(COL4A1):c.2089C>T (p.Pro697Ser)
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu) rs199573161
NM_001845.6(COL4A1):c.2164C>G (p.Pro722Ala)
NM_001845.6(COL4A1):c.2194-11G>A
NM_001845.6(COL4A1):c.2213T>C (p.Leu738Pro)
NM_001845.6(COL4A1):c.221C>T (p.Pro74Leu)
NM_001845.6(COL4A1):c.2324C>G (p.Pro775Arg)
NM_001845.6(COL4A1):c.2399G>A (p.Gly800Glu)
NM_001845.6(COL4A1):c.2405G>C (p.Gly802Ala) rs1301668632
NM_001845.6(COL4A1):c.2479G>A (p.Glu827Lys) rs2139164381
NM_001845.6(COL4A1):c.2522C>A (p.Pro841His)
NM_001845.6(COL4A1):c.2816A>G (p.Asp939Gly) rs2139163019
NM_001845.6(COL4A1):c.2890G>C (p.Glu964Gln) rs1555303045
NM_001845.6(COL4A1):c.3046A>G (p.Met1016Val)
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys) rs1251048055
NM_001845.6(COL4A1):c.3463A>G (p.Ser1155Gly)
NM_001845.6(COL4A1):c.3488G>A (p.Gly1163Glu) rs2139159488
NM_001845.6(COL4A1):c.3501A>G (p.Glu1167=)
NM_001845.6(COL4A1):c.3512C>G (p.Pro1171Arg)
NM_001845.6(COL4A1):c.3530G>C (p.Gly1177Ala)
NM_001845.6(COL4A1):c.3579C>G (p.Phe1193Leu) rs968106620
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
NM_001845.6(COL4A1):c.3701C>T (p.Pro1234Leu)
NM_001845.6(COL4A1):c.3748C>A (p.Pro1250Thr) rs144403132
NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu) rs2139154502
NM_001845.6(COL4A1):c.3857C>A (p.Pro1286His) rs1064795795
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
NM_001845.6(COL4A1):c.4036C>T (p.Pro1346Ser)
NM_001845.6(COL4A1):c.4049G>A (p.Gly1350Asp) rs2139149340
NM_001845.6(COL4A1):c.4216C>A (p.Gln1406Lys)
NM_001845.6(COL4A1):c.4235C>A (p.Pro1412His) rs2139147388
NM_001845.6(COL4A1):c.4352A>G (p.His1451Arg)
NM_001845.6(COL4A1):c.4354A>G (p.Ser1452Gly) rs2139146183
NM_001845.6(COL4A1):c.4408G>T (p.Gly1470Trp) rs2139146124
NM_001845.6(COL4A1):c.4424A>T (p.Tyr1475Phe) rs2139146108
NM_001845.6(COL4A1):c.4434C>T (p.Gly1478=) rs1877121184
NM_001845.6(COL4A1):c.445C>A (p.Pro149Thr)
NM_001845.6(COL4A1):c.4484G>A (p.Arg1495His)
NM_001845.6(COL4A1):c.4553A>G (p.Asp1518Gly)
NM_001845.6(COL4A1):c.4573A>G (p.Thr1525Ala) rs2138427724
NM_001845.6(COL4A1):c.4588C>T (p.Pro1530Ser)
NM_001845.6(COL4A1):c.4597A>G (p.Met1533Val)
NM_001845.6(COL4A1):c.4712C>A (p.Pro1571His)
NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)
NM_001845.6(COL4A1):c.4877C>G (p.Ala1626Gly)
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
NM_001845.6(COL4A1):c.4949T>C (p.Leu1650Ser) rs2138415466
NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val) rs1876444347
NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val) rs1301142454
NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)
NM_001845.6(COL4A1):c.559C>A (p.Pro187Thr) rs1064795868
NM_001845.6(COL4A1):c.584C>G (p.Pro195Arg) rs2139202272
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.616-10T>A
NM_001845.6(COL4A1):c.619C>A (p.Pro207Thr) rs181845921
NM_001845.6(COL4A1):c.62A>T (p.Glu21Val) rs2139331714
NM_001845.6(COL4A1):c.719C>A (p.Pro240Gln) rs2139199218
NM_001845.6(COL4A1):c.71G>C (p.Arg24Pro)
NM_001845.6(COL4A1):c.763G>A (p.Ala255Thr)
NM_001845.6(COL4A1):c.780+3A>G
NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)
NM_001845.6(COL4A1):c.903+2dup rs1162426605
NM_001845.6(COL4A1):c.904-8G>A rs767732094
NM_001845.6(COL4A1):c.912T>A (p.Pro304=) rs770951433
NM_001845.6(COL4A1):c.995G>C (p.Gly332Ala) rs1228232315
NM_001845.6(COL4A1):c.997A>G (p.Ile333Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.