ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely benign for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000091.5(COL4A3):c.888+17G>A rs199840268 0.00068
NM_000091.5(COL4A3):c.2489-18T>A rs79573480 0.00035
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 0.00016
NM_000091.5(COL4A3):c.2125+14T>A rs563131123 0.00014
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=) rs554940562 0.00014
NM_000091.5(COL4A3):c.442-15T>C rs770450269 0.00013
NM_000091.5(COL4A3):c.468+8A>G rs374368957 0.00013
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=) rs373720128 0.00012
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000091.5(COL4A3):c.4755+18A>G rs553695911 0.00009
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=) rs750401163 0.00007
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=) rs755312698 0.00005
NM_000091.5(COL4A3):c.325-20G>A rs760968700 0.00005
NM_000091.5(COL4A3):c.1115-12A>G rs761088575 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.3211-13G>C rs200555661 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.988-6C>T rs762463604 0.00004
NM_000091.5(COL4A3):c.2489-9C>T rs749574789 0.00003
NM_000091.5(COL4A3):c.714G>A (p.Pro238=) rs555225084 0.00003
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=) rs748004604 0.00002
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=) rs751356130 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=) rs749945759 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=) rs776512229 0.00001
NM_000091.5(COL4A3):c.2489-5C>T rs1351916467 0.00001
NM_000091.5(COL4A3):c.3337+15T>C rs1230244758 0.00001
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=) rs754567461 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=) rs1309123639 0.00001
NM_000091.5(COL4A3):c.4851T>C (p.His1617=) rs74379096 0.00001
NM_000091.5(COL4A3):c.933+9T>C rs752703682 0.00001
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2375-18T>C rs1449018778
NM_000091.5(COL4A3):c.2746+9T>C rs367574148
NM_000091.5(COL4A3):c.280-10_280-9del rs768505729
NM_000091.5(COL4A3):c.3211-7A>G rs2106226162
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.384T>C (p.Ser128=) rs2125910138
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.766-7T>C rs777532605

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