ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.5(COL4A4):c.710del (p.Gly237fs) rs2060994755
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) rs1005389790

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