ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance for Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive

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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) rs200107989 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00021
NM_000091.5(COL4A3):c.3224T>G (p.Leu1075Arg) rs775116314 0.00012
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) rs377136253 0.00011
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) rs759074046 0.00011
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00010
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) rs374427586 0.00010
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00009
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00008
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) rs200125890 0.00006
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu) rs772037798 0.00005
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile) rs376750724 0.00005
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu) rs781415019 0.00005
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 0.00005
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=) rs200416402 0.00003
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=) rs746928034 0.00003
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu) rs768404745 0.00003
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile) rs917860017 0.00003
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His) rs201841428 0.00003
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His) rs201095498 0.00003
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln) rs373952897 0.00002
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr) rs776039489 0.00002
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly) rs762665490 0.00002
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=) rs1045022382 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile) rs555034953 0.00002
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His) rs761355107 0.00001
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser) rs1041119510 0.00001
NM_000091.5(COL4A3):c.1622G>C (p.Gly541Ala) rs1288801444 0.00001
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00001
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro) rs751113129 0.00001
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu) rs1164505506 0.00001
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu) rs201222896 0.00001
NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=) rs1032938979 0.00001
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=) rs768260547 0.00001
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val) rs541108316 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.804C>T (p.Gly268=) rs567238530 0.00001
NM_000091.5(COL4A3):c.1000G>C (p.Asp334His)
NM_000091.5(COL4A3):c.1029+4del
NM_000091.5(COL4A3):c.1100C>T (p.Ala367Val)
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys) rs778397487
NM_000091.5(COL4A3):c.1151G>T (p.Gly384Val)
NM_000091.5(COL4A3):c.1243G>A (p.Gly415Arg)
NM_000091.5(COL4A3):c.1249C>T (p.Pro417Ser)
NM_000091.5(COL4A3):c.127_128delinsCA (p.Gly43Gln)
NM_000091.5(COL4A3):c.131C>A (p.Ala44Asp)
NM_000091.5(COL4A3):c.1337G>T (p.Gly446Val)
NM_000091.5(COL4A3):c.1349_1352delinsTTCG (p.Asp450_His451delinsValArg)
NM_000091.5(COL4A3):c.1366T>G (p.Tyr456Asp)
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser) rs2469657520
NM_000091.5(COL4A3):c.1504+4_1504+6delinsAAT
NM_000091.5(COL4A3):c.1537C>T (p.Pro513Ser)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1744C>G (p.Pro582Ala)
NM_000091.5(COL4A3):c.1774A>C (p.Lys592Gln)
NM_000091.5(COL4A3):c.1880A>G (p.Gln627Arg)
NM_000091.5(COL4A3):c.1928-12A>G
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu) rs2106124459
NM_000091.5(COL4A3):c.1963C>T (p.Pro655Ser)
NM_000091.5(COL4A3):c.2053C>G (p.Pro685Ala)
NM_000091.5(COL4A3):c.2126-3T>C
NM_000091.5(COL4A3):c.2167C>T (p.Pro723Ser)
NM_000091.5(COL4A3):c.2223+5G>A
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=) rs1574774667
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser) rs770920210
NM_000091.5(COL4A3):c.2288A>G (p.Asn763Ser)
NM_000091.5(COL4A3):c.2296G>A (p.Glu766Lys)
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp) rs2106152150
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser) rs774838919
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg) rs774838919
NM_000091.5(COL4A3):c.2489-12A>T
NM_000091.5(COL4A3):c.2588A>T (p.His863Leu)
NM_000091.5(COL4A3):c.2626C>T (p.Pro876Ser)
NM_000091.5(COL4A3):c.2657-13_2657-11del
NM_000091.5(COL4A3):c.2806C>A (p.Gln936Lys)
NM_000091.5(COL4A3):c.2819G>T (p.Gly940Val)
NM_000091.5(COL4A3):c.2827G>C (p.Gly943Arg)
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=) rs2106201680
NM_000091.5(COL4A3):c.2947C>A (p.Leu983Ile)
NM_000091.5(COL4A3):c.294G>C (p.Leu98Phe)
NM_000091.5(COL4A3):c.2980+19T>C
NM_000091.5(COL4A3):c.2993A>G (p.Asp998Gly)
NM_000091.5(COL4A3):c.3001A>G (p.Ser1001Gly)
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr) rs202071907
NM_000091.5(COL4A3):c.3064A>G (p.Met1022Val)
NM_000091.5(COL4A3):c.3104C>T (p.Pro1035Leu)
NM_000091.5(COL4A3):c.3131C>G (p.Pro1044Arg)
NM_000091.5(COL4A3):c.3181G>T (p.Gly1061Cys)
NM_000091.5(COL4A3):c.3194G>A (p.Gly1065Glu)
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3211-11C>G
NM_000091.5(COL4A3):c.3254T>C (p.Met1085Thr)
NM_000091.5(COL4A3):c.3269C>T (p.Pro1090Leu) rs936562088
NM_000091.5(COL4A3):c.329C>T (p.Thr110Ile)
NM_000091.5(COL4A3):c.3300G>C (p.Glu1100Asp)
NM_000091.5(COL4A3):c.3326C>T (p.Pro1109Leu)
NM_000091.5(COL4A3):c.3363G>A (p.Leu1121=)
NM_000091.5(COL4A3):c.3386T>C (p.Leu1129Pro)
NM_000091.5(COL4A3):c.346C>T (p.Pro116Ser)
NM_000091.5(COL4A3):c.3475C>T (p.Arg1159Cys)
NM_000091.5(COL4A3):c.3520T>G (p.Leu1174Val)
NM_000091.5(COL4A3):c.3539G>T (p.Gly1180Val)
NM_000091.5(COL4A3):c.3566-11C>T
NM_000091.5(COL4A3):c.3567A>T (p.Gly1189=)
NM_000091.5(COL4A3):c.3598C>T (p.Pro1200Ser)
NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=) rs1186120881
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.3701T>C (p.Ile1234Thr)
NM_000091.5(COL4A3):c.3733G>C (p.Gly1245Arg)
NM_000091.5(COL4A3):c.3780G>T (p.Gly1260=)
NM_000091.5(COL4A3):c.3801A>C (p.Lys1267Asn)
NM_000091.5(COL4A3):c.3853G>A (p.Ala1285Thr)
NM_000091.5(COL4A3):c.388-10T>C
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser) rs769522094
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg) rs757747350
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val) rs779233761
NM_000091.5(COL4A3):c.4061T>C (p.Ile1354Thr)
NM_000091.5(COL4A3):c.4277C>A (p.Pro1426Gln)
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly) rs2106283943
NM_000091.5(COL4A3):c.4413T>G (p.Phe1471Leu)
NM_000091.5(COL4A3):c.4425T>G (p.Phe1475Leu)
NM_000091.5(COL4A3):c.4466C>T (p.Thr1489Ile)
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4502C>T (p.Pro1501Leu)
NM_000091.5(COL4A3):c.4609A>G (p.Thr1537Ala)
NM_000091.5(COL4A3):c.4612G>A (p.Gly1538Ser)
NM_000091.5(COL4A3):c.4628C>T (p.Pro1543Leu)
NM_000091.5(COL4A3):c.4636A>T (p.Ser1546Cys)
NM_000091.5(COL4A3):c.4664C>A (p.Ala1555Glu)
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.4669G>A (p.Ala1557Thr)
NM_000091.5(COL4A3):c.4700T>C (p.Ile1567Thr)
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser) rs2073644777
NM_000091.5(COL4A3):c.470G>A (p.Gly157Asp)
NM_000091.5(COL4A3):c.4795G>T (p.Ala1599Ser)
NM_000091.5(COL4A3):c.4824C>A (p.Phe1608Leu)
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.5(COL4A3):c.4939C>T (p.Pro1647Ser)
NM_000091.5(COL4A3):c.4989G>C (p.Gln1663His)
NM_000091.5(COL4A3):c.528A>C (p.Pro176=)
NM_000091.5(COL4A3):c.544C>G (p.Gln182Glu)
NM_000091.5(COL4A3):c.580_597dup (p.Pro199_Pro200insValGlyProProGlyPro)
NM_000091.5(COL4A3):c.635G>C (p.Arg212Thr)
NM_000091.5(COL4A3):c.645+3A>G
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp) rs2069900248
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln) rs188942711
NM_000091.5(COL4A3):c.687+13C>T rs1344117870
NM_000091.5(COL4A3):c.687+1G>T rs2069903710
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala) rs747868845
NM_000091.5(COL4A3):c.761G>A (p.Arg254Lys)
NM_000091.5(COL4A3):c.761G>C (p.Arg254Thr)
NM_000091.5(COL4A3):c.765+3A>G
NM_000091.5(COL4A3):c.778G>A (p.Glu260Lys)
NM_000091.5(COL4A3):c.862G>C (p.Gly288Arg)
NM_000091.5(COL4A3):c.888G>A (p.Gln296=)
NM_000091.5(COL4A3):c.941A>C (p.Lys314Thr)

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