ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr) rs572059687 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371 0.00001
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr) rs370606294 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000091.5(COL4A3):c.2374+9dup rs1553759691
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272

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