ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance by GeneDx

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr) rs188324379 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu) rs201198284 0.00021
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00021
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser) rs1338508417 0.00012
NM_000091.5(COL4A3):c.3224T>G (p.Leu1075Arg) rs775116314 0.00012
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) rs759074046 0.00011
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) rs376762135 0.00010
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.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00008
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00008
NM_000091.5(COL4A3):c.3983G>T (p.Gly1328Val) rs372237167 0.00007
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu) rs368480491 0.00007
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) rs745472969 0.00006
NM_000091.5(COL4A3):c.824C>T (p.Pro275Leu) rs372626966 0.00006
NM_000091.5(COL4A3):c.1075C>G (p.Pro359Ala) rs757538073 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00005
NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln) rs760637313 0.00005
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000091.5(COL4A3):c.4034G>A (p.Arg1345His) rs553185617 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.4778G>T (p.Gly1593Val) rs373407763 0.00005
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr) rs767033956 0.00004
NM_000091.5(COL4A3):c.672A>G (p.Gly224=) rs375059614 0.00004
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00003
NM_000091.5(COL4A3):c.3607C>T (p.Pro1203Ser) rs200884685 0.00003
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) rs1178734829 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr) rs776039489 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly) rs762665490 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.3948C>T (p.Gly1316=) rs368594549 0.00002
NM_000091.5(COL4A3):c.3986C>G (p.Ser1329Cys) rs1390815554 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser) rs1041119510 0.00001
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502 0.00001
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) rs752819997 0.00001
NM_000091.5(COL4A3):c.2012G>A (p.Gly671Asp) rs1085307955 0.00001
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00001
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr) rs754146345 0.00001
NM_000091.5(COL4A3):c.2531C>T (p.Pro844Leu) rs1385197225 0.00001
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn) rs773119622 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.3040C>G (p.Pro1014Ala) rs773321281 0.00001
NM_000091.5(COL4A3):c.3236T>A (p.Met1079Lys) rs762799043 0.00001
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=) rs770449474 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3449C>T (p.Pro1150Leu) rs1444179511 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3704C>G (p.Pro1235Arg) rs955042051 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) rs976882559 0.00001
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr) rs774089446 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 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.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.782A>G (p.Lys261Arg) rs769837137 0.00001
NM_000091.5(COL4A3):c.1004T>C (p.Ile335Thr)
NM_000091.5(COL4A3):c.1034A>T (p.Glu345Val) rs951964916
NM_000091.5(COL4A3):c.1100C>T (p.Ala367Val)
NM_000091.5(COL4A3):c.1307G>A (p.Gly436Glu) rs1237274947
NM_000091.5(COL4A3):c.1325T>C (p.Val442Ala) rs2125981003
NM_000091.5(COL4A3):c.1424T>C (p.Leu475Pro) rs754249385
NM_000091.5(COL4A3):c.1527G>C (p.Leu509Phe) rs2125989308
NM_000091.5(COL4A3):c.1957C>A (p.Pro653Thr) rs2071566860
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1972C>G (p.Pro658Ala) rs749751219
NM_000091.5(COL4A3):c.1977A>G (p.Gly659=) rs1438033217
NM_000091.5(COL4A3):c.1991C>T (p.Pro664Leu)
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=) rs1574774667
NM_000091.5(COL4A3):c.2255C>A (p.Pro752Gln)
NM_000091.5(COL4A3):c.2350A>G (p.Asn784Asp) rs909666135
NM_000091.5(COL4A3):c.2414C>A (p.Pro805His)
NM_000091.5(COL4A3):c.2425T>G (p.Cys809Gly)
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.2562A>C (p.Glu854Asp) rs2469769873
NM_000091.5(COL4A3):c.2657-6C>T rs2072136807
NM_000091.5(COL4A3):c.2805A>C (p.Glu935Asp) rs2106174959
NM_000091.5(COL4A3):c.2868A>T (p.Glu956Asp)
NM_000091.5(COL4A3):c.287G>A (p.Ser96Asn) rs2125906629
NM_000091.5(COL4A3):c.2981-10T>A rs2106205916
NM_000091.5(COL4A3):c.2992G>T (p.Asp998Tyr) rs2106206059
NM_000091.5(COL4A3):c.3069A>T (p.Pro1023=) rs2469822144
NM_000091.5(COL4A3):c.3070+4A>G rs2072591669
NM_000091.5(COL4A3):c.3188G>A (p.Arg1063Lys)
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.326G>A (p.Gly109Asp)
NM_000091.5(COL4A3):c.329C>G (p.Thr110Ser) rs543390575
NM_000091.5(COL4A3):c.3336A>G (p.Pro1112=)
NM_000091.5(COL4A3):c.3471A>C (p.Gln1157His) rs761971869
NM_000091.5(COL4A3):c.3520T>G (p.Leu1174Val)
NM_000091.5(COL4A3):c.3595T>C (p.Phe1199Leu) rs779975412
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.4064C>T (p.Ser1355Phe) rs959713450
NM_000091.5(COL4A3):c.4067T>G (p.Leu1356Arg) rs2073402443
NM_000091.5(COL4A3):c.4204C>A (p.Pro1402Thr)
NM_000091.5(COL4A3):c.4208G>A (p.Gly1403Glu) rs773708527
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del) rs746597831
NM_000091.5(COL4A3):c.4294C>T (p.Arg1432Cys)
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4366G>C (p.Ala1456Pro)
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4661C>G (p.Pro1554Arg) rs1221621618
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro) rs775823265
NM_000091.5(COL4A3):c.4812C>G (p.Cys1604Trp) rs1064796314
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys) rs2106295155
NM_000091.5(COL4A3):c.580G>C (p.Val194Leu)
NM_000091.5(COL4A3):c.609+5G>A
NM_000091.5(COL4A3):c.641C>A (p.Pro214His)
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.749G>A (p.Gly250Asp)
NM_000091.5(COL4A3):c.789C>G (p.Asp263Glu) rs779821655
NM_000091.5(COL4A3):c.815C>T (p.Pro272Leu) rs2469568827
NM_000091.5(COL4A3):c.856G>A (p.Glu286Lys)
NM_000091.5(COL4A3):c.881G>A (p.Gly294Asp) rs1553753137
NM_000091.5(COL4A3):c.884T>G (p.Leu295Arg) rs2125936511

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