ClinVar Miner

List of variants studied for Alport syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
COL4A3, 5-BP DEL, NT4414
COL4A3, ALU INS, EX6
COL4A3, IVS21DS, G-A, -1
COL4A5, 10-15-KB INS, 40-KB DEL
COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION
COL4A5, 38-KB DEL
COL4A5, 450-KB DEL
COL4A5, CYS108SER
COL4A5, EX5-10DEL
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000495.5(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_000495.5(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_000495.5(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_000495.5(COL4A5):c.4613G>C (p.Trp1538Ser) rs104886293
NM_000495.5(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_000495.5(COL4A5):c.974G>A (p.Gly325Glu) rs104886091
NM_033380.2(COL4A5):c.[866G>T;4282C>T]

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