ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive Alport syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
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_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) rs377136253 0.00009
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His) rs893516153 0.00007
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln) rs371326070 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
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.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 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.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) rs761717909 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_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
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_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) rs371173786 0.00002
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu) rs372413045 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 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.3764C>A (p.Pro1255His) rs759579368 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 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.44C>G (p.Pro15Arg) rs1260966222 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala) rs2071331630
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu) rs2071336508
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser) rs747891356
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr) rs1354756195
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly) rs766520935
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615

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