List of variants in gene COL4A4 reported as uncertain significance by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
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_000092.5(COL4A4):c.2171G>A (p.Arg724His)	rs200146486	0.00009
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)	rs200973262	0.00008
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)	rs753208968	0.00006
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_000092.5(COL4A4):c.665C>T (p.Pro222Leu)	rs773533313	0.00003
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.4333+3A>G	rs1455105815	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_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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