ClinVar Miner

List of variants reported as benign for Alport syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.4(COL4A3):c.144+12C>A rs1882435
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.4(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*2120delA rs56983325
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*566delA rs11314253
NM_000092.4(COL4A4):c.*774dupA rs59918285
NM_000092.4(COL4A4):c.-2C>T rs2228558
NM_000092.4(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.4(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.4(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.4(COL4A4):c.3817+9G>C rs13423714
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.4(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.4(COL4A4):c.4523-8T>C rs13419076
NM_000092.4(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1191C>G (p.Gly397=) rs104886106
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_000495.5(COL4A5):c.3255T>A (p.Pro1085=) rs104886230
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.3582C>T (p.Pro1194=) rs104886243
NM_000495.5(COL4A5):c.4239C>T (p.Leu1413=) rs104886271
NM_000495.5(COL4A5):c.4275C>T (p.Asp1425=) rs61746140
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.609+21T>C rs6622333
NM_000495.5(COL4A5):c.970C>T (p.Pro324Ser) rs104886087
NM_033380.2(COL4A5):c.1033-15delT (p.?) rs104886089

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