ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 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.2168C>T (p.Pro723Leu) rs201198284 0.00024
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
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.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
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.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) rs376762135 0.00009
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) rs374427586 0.00009
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
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.513C>T (p.Gly171=) rs199514043 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.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000091.5(COL4A3):c.4034G>A (p.Arg1345His) rs553185617 0.00005
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) rs1178734829 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.3986C>G (p.Ser1329Cys) rs1390815554 0.00003
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 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.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser) rs1041119510 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.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.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.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.782A>G (p.Lys261Arg) rs769837137 0.00001
NM_000091.5(COL4A3):c.1034A>T (p.Glu345Val) rs951964916
NM_000091.5(COL4A3):c.1307G>A (p.Gly436Glu)
NM_000091.5(COL4A3):c.1325T>C (p.Val442Ala) rs2125981003
NM_000091.5(COL4A3):c.1424T>C (p.Leu475Pro)
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=)
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=) rs1574774667
NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln)
NM_000091.5(COL4A3):c.2350A>G (p.Asn784Asp)
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
NM_000091.5(COL4A3):c.2562A>C (p.Glu854Asp)
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
NM_000091.5(COL4A3):c.2805A>C (p.Glu935Asp) rs2106174959
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.3040C>G (p.Pro1014Ala)
NM_000091.5(COL4A3):c.3069A>T (p.Pro1023=)
NM_000091.5(COL4A3):c.3070+4A>G
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.3290C>G (p.Ala1097Gly)
NM_000091.5(COL4A3):c.3449C>T (p.Pro1150Leu)
NM_000091.5(COL4A3):c.3471A>C (p.Gln1157His) rs761971869
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3607C>T (p.Pro1203Ser)
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.3704C>G (p.Pro1235Arg)
NM_000091.5(COL4A3):c.3948C>T (p.Gly1316=)
NM_000091.5(COL4A3):c.3983G>T (p.Gly1328Val)
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
NM_000091.5(COL4A3):c.4064C>T (p.Ser1355Phe)
NM_000091.5(COL4A3):c.4208G>A (p.Gly1403Glu)
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
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.440C>T (p.Pro147Leu)
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)
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.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.789C>G (p.Asp263Glu) rs779821655
NM_000091.5(COL4A3):c.815C>T (p.Pro272Leu)
NM_000091.5(COL4A3):c.881G>A (p.Gly294Asp) rs1553753137
NM_000091.5(COL4A3):c.884T>G (p.Leu295Arg) rs2125936511

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.