ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance for Alport syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.2510-33A>G rs104886358 0.00039
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.4087+6A>T rs748429212 0.00010
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp) rs138903372 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val) rs769214642 0.00002
NM_033380.3(COL4A5):c.142-6T>C rs1047699266 0.00002
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe) rs2066735216 0.00001
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=) rs1166405194
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys) rs1186225656
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser) rs2147809975
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1780-11T>A rs2147813162
NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys)
NM_033380.3(COL4A5):c.1948+4A>C rs1311897513
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2086G>C (p.Gly696Arg) rs2147820987
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu) rs2065868609
NM_033380.3(COL4A5):c.2245-3A>G rs1603293513
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
NM_033380.3(COL4A5):c.2767+3_2767+14del
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val) rs2147865541
NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
NM_033380.3(COL4A5):c.3455-8T>G rs1569505503
NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=) rs1556445736
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.3808+17G>A rs1603312557
NM_033380.3(COL4A5):c.384+4A>T rs2147746864
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) rs2066063898
NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr) rs2147991674
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=) rs1603326524
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg) rs2147759184
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala) rs2148001550
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr) rs2068714182
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg) rs866393484
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) rs2068734296
NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg)
NM_033380.3(COL4A5):c.609+5G>A
NM_033380.3(COL4A5):c.687+4A>T
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522
NM_033380.3(COL4A5):c.864G>A (p.Lys288=) rs1263254683
NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser) rs2147776763
NM_033380.3(COL4A5):c.891+5G>A rs2147776814
NM_033380.3(COL4A5):c.991-7T>A rs2147784245

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