ClinVar Miner

List of variants in gene COL4A4 reported as likely benign for autosomal recessive Alport syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000092.5(COL4A4):c.1987+16T>A rs532962885 0.00016
NM_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 0.00013
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=) rs141793628 0.00012
NM_000092.5(COL4A4):c.2546-6T>C rs199710625 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=) rs370383308 0.00007
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=) rs376448360 0.00006
NM_000092.5(COL4A4):c.543C>T (p.Ala181=) rs777358824 0.00006
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=) rs200849651 0.00005
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=) rs375189390 0.00005
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=) rs773270107 0.00004
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=) rs780182097 0.00004
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4091-336C>T rs925971110 0.00003
NM_000092.5(COL4A4):c.4091-356_4091-355dup rs1553620826 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000092.5(COL4A4):c.1987+8T>A rs780277266 0.00002
NM_000092.5(COL4A4):c.4091-330T>C rs774439386 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4081+7T>C rs779775976 0.00001
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.4081+15T>C rs1356475870
NM_000092.5(COL4A4):c.4081+22A>C rs1553623967
NM_000092.5(COL4A4):c.4081+22A>G rs1553623967
NM_000092.5(COL4A4):c.4091-323A>G rs774221440
NM_000092.5(COL4A4):c.4091-346A>G rs753906137
NM_000092.5(COL4A4):c.4091-348T>C rs1553620812
NM_000092.5(COL4A4):c.4091-349G>A rs1434118080
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265

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