ClinVar Miner

List of variants studied for Alport syndrome by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
COL4A5, 10-15-KB INS, 40-KB DEL
Multiple alleles
NG_011977.2:g.(239831_242576)_(252772_257824)del
NG_011977.2:g.(246966_251107)_?del
NG_011977.2:g.?_(146097_162513)del
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4929-388G>T rs1325453230
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091

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