ClinVar Miner

List of variants reported as uncertain significance for hematuria, benign familial, 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) rs199911379 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.4810-15_4810-14del rs776687068 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) rs764465049 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.490-3C>G rs762040845 0.00002
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1370-5G>T rs752509706 0.00001
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr) rs1411689737 0.00001
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn) rs747599746 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2860+3A>C rs1214723450 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=) rs777256419 0.00001
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg) rs1403779580 0.00001
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) rs749899964 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.100C>A (p.Gln34Lys)
NM_000092.5(COL4A4):c.1029G>T (p.Lys343Asn)
NM_000092.5(COL4A4):c.104A>G (p.Tyr35Cys)
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1106C>T (p.Pro369Leu)
NM_000092.5(COL4A4):c.1124C>T (p.Pro375Leu)
NM_000092.5(COL4A4):c.1130G>A (p.Arg377His)
NM_000092.5(COL4A4):c.1142C>T (p.Thr381Ile)
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly)
NM_000092.5(COL4A4):c.114G>A (p.Gly38=)
NM_000092.5(COL4A4):c.119G>A (p.Gly40Glu)
NM_000092.5(COL4A4):c.1235T>G (p.Phe412Cys)
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
NM_000092.5(COL4A4):c.1252_1278dup (p.Gly426_Arg427insLeuProGlyGluAlaGlyIleProGly)
NM_000092.5(COL4A4):c.1277G>A (p.Gly426Glu)
NM_000092.5(COL4A4):c.1358C>T (p.Pro453Leu)
NM_000092.5(COL4A4):c.1364C>T (p.Ser455Leu)
NM_000092.5(COL4A4):c.1369+10T>G rs2060083691
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr)
NM_000092.5(COL4A4):c.1438A>G (p.Arg480Gly)
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala)
NM_000092.5(COL4A4):c.1504C>T (p.Pro502Ser)
NM_000092.5(COL4A4):c.1536G>T (p.Gly512=)
NM_000092.5(COL4A4):c.1538G>A (p.Ser513Asn)
NM_000092.5(COL4A4):c.1577A>G (p.Lys526Arg)
NM_000092.5(COL4A4):c.1612C>G (p.Pro538Ala)
NM_000092.5(COL4A4):c.1619T>C (p.Leu540Pro)
NM_000092.5(COL4A4):c.1696+3G>A
NM_000092.5(COL4A4):c.1696+6C>T
NM_000092.5(COL4A4):c.1748C>T (p.Pro583Leu)
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp)
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln)
NM_000092.5(COL4A4):c.1772A>G (p.His591Arg)
NM_000092.5(COL4A4):c.1798C>T (p.Pro600Ser)
NM_000092.5(COL4A4):c.1820C>A (p.Ala607Glu)
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln)
NM_000092.5(COL4A4):c.193-13T>A
NM_000092.5(COL4A4):c.1956G>A (p.Val652=) rs2150475372
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser)
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser)
NM_000092.5(COL4A4):c.1988G>A (p.Gly663Asp)
NM_000092.5(COL4A4):c.199C>T (p.Pro67Ser)
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
NM_000092.5(COL4A4):c.2044G>A (p.Asp682Asn)
NM_000092.5(COL4A4):c.2046T>G (p.Asp682Glu)
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
NM_000092.5(COL4A4):c.2254G>C (p.Val752Leu)
NM_000092.5(COL4A4):c.2263C>A (p.Gln755Lys)
NM_000092.5(COL4A4):c.2283C>A (p.Asp761Glu)
NM_000092.5(COL4A4):c.2363C>T (p.Pro788Leu)
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
NM_000092.5(COL4A4):c.2441A>G (p.His814Arg)
NM_000092.5(COL4A4):c.2485G>C (p.Glu829Gln)
NM_000092.5(COL4A4):c.2545+2_2545+3dup
NM_000092.5(COL4A4):c.2545+5G>A
NM_000092.5(COL4A4):c.2546-16C>G
NM_000092.5(COL4A4):c.254T>C (p.Ile85Thr)
NM_000092.5(COL4A4):c.2579T>G (p.Val860Gly)
NM_000092.5(COL4A4):c.2620C>A (p.Leu874Ile)
NM_000092.5(COL4A4):c.2650C>A (p.Pro884Thr)
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
NM_000092.5(COL4A4):c.2675C>A (p.Pro892His)
NM_000092.5(COL4A4):c.2715_2716+1dup
NM_000092.5(COL4A4):c.2716+5G>A
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000092.5(COL4A4):c.2861-14A>G
NM_000092.5(COL4A4):c.2861-17A>G
NM_000092.5(COL4A4):c.2957C>T (p.Pro986Leu)
NM_000092.5(COL4A4):c.3028C>G (p.Pro1010Ala)
NM_000092.5(COL4A4):c.3057G>T (p.Glu1019Asp)
NM_000092.5(COL4A4):c.3172C>A (p.Pro1058Thr)
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
NM_000092.5(COL4A4):c.3195T>A (p.Asp1065Glu)
NM_000092.5(COL4A4):c.3211A>G (p.Lys1071Glu)
NM_000092.5(COL4A4):c.3214+3A>G
NM_000092.5(COL4A4):c.3215-3C>A
NM_000092.5(COL4A4):c.322G>T (p.Asp108Tyr)
NM_000092.5(COL4A4):c.3260A>C (p.Lys1087Thr)
NM_000092.5(COL4A4):c.3265G>A (p.Glu1089Lys)
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp)
NM_000092.5(COL4A4):c.3305C>T (p.Ser1102Phe)
NM_000092.5(COL4A4):c.331C>T (p.Pro111Ser)
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val)
NM_000092.5(COL4A4):c.3356G>C (p.Arg1119Thr)
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.335C>T (p.Thr112Ile)
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.3394C>G (p.Pro1132Ala)
NM_000092.5(COL4A4):c.3441G>A (p.Met1147Ile)
NM_000092.5(COL4A4):c.3472G>A (p.Asp1158Asn)
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu)
NM_000092.5(COL4A4):c.3520C>T (p.Pro1174Ser)
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
NM_000092.5(COL4A4):c.3548A>G (p.Lys1183Arg)
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
NM_000092.5(COL4A4):c.3656G>T (p.Gly1219Val)
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
NM_000092.5(COL4A4):c.3730G>A (p.Ala1244Thr)
NM_000092.5(COL4A4):c.3848G>A (p.Ser1283Asn)
NM_000092.5(COL4A4):c.3850G>A (p.Val1284Ile)
NM_000092.5(COL4A4):c.386C>G (p.Pro129Arg)
NM_000092.5(COL4A4):c.3977C>G (p.Pro1326Arg)
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=)
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
NM_000092.5(COL4A4):c.4081+5G>A
NM_000092.5(COL4A4):c.4091-10C>T
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
NM_000092.5(COL4A4):c.4217-7T>A
NM_000092.5(COL4A4):c.425A>G (p.Asn142Ser)
NM_000092.5(COL4A4):c.4327G>A (p.Gly1443Arg)
NM_000092.5(COL4A4):c.4333+6G>T
NM_000092.5(COL4A4):c.4369G>A (p.Gly1457Arg)
NM_000092.5(COL4A4):c.4415G>C (p.Ser1472Thr)
NM_000092.5(COL4A4):c.4424A>T (p.Asp1475Val)
NM_000092.5(COL4A4):c.4463G>C (p.Trp1488Ser)
NM_000092.5(COL4A4):c.4500G>T (p.Glu1500Asp)
NM_000092.5(COL4A4):c.4522+14A>T
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His)
NM_000092.5(COL4A4):c.469C>T (p.Leu157Phe)
NM_000092.5(COL4A4):c.4700C>T (p.Ala1567Val)
NM_000092.5(COL4A4):c.4701_4705delinsCC (p.Val1568_Cys1569delinsArg)
NM_000092.5(COL4A4):c.4709A>G (p.Glu1570Gly)
NM_000092.5(COL4A4):c.4738A>G (p.Ser1580Gly)
NM_000092.5(COL4A4):c.4757C>G (p.Pro1586Arg)
NM_000092.5(COL4A4):c.4759C>G (p.Pro1587Ala)
NM_000092.5(COL4A4):c.4776G>C (p.Trp1592Cys)
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
NM_000092.5(COL4A4):c.4809+17T>A
NM_000092.5(COL4A4):c.4810-6G>A
NM_000092.5(COL4A4):c.4814C>T (p.Thr1605Ile)
NM_000092.5(COL4A4):c.4819G>T (p.Ala1607Ser)
NM_000092.5(COL4A4):c.4829A>T (p.Gln1610Leu)
NM_000092.5(COL4A4):c.4846C>A (p.Leu1616Ile)
NM_000092.5(COL4A4):c.4846C>G (p.Leu1616Val)
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser)
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys)
NM_000092.5(COL4A4):c.4969G>A (p.Ala1657Thr)
NM_000092.5(COL4A4):c.5070C>A (p.Ser1690Arg)
NM_000092.5(COL4A4):c.5070C>G (p.Ser1690Arg)
NM_000092.5(COL4A4):c.518G>A (p.Gly173Glu)
NM_000092.5(COL4A4):c.544G>A (p.Val182Ile)
NM_000092.5(COL4A4):c.593C>T (p.Pro198Leu)
NM_000092.5(COL4A4):c.610G>A (p.Gly204Arg)
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu)
NM_000092.5(COL4A4):c.693+3A>G
NM_000092.5(COL4A4):c.703G>A (p.Gly235Ser)
NM_000092.5(COL4A4):c.704G>A (p.Gly235Asp)
NM_000092.5(COL4A4):c.705_710del (p.235GV[1])
NM_000092.5(COL4A4):c.741G>T (p.Glu247Asp)
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816G>A (p.Lys272=)
NM_000092.5(COL4A4):c.821T>C (p.Ile274Thr)
NM_000092.5(COL4A4):c.910C>A (p.Pro304Thr)
NM_000092.5(COL4A4):c.975+4A>G

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