ClinVar Miner

List of variants in gene COL4A4 reported as pathogenic for Alport syndrome, autosomal recessive

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Total variants: 28
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HGVS dbSNP
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
NM_000092.5(COL4A4):c.3214+1G>T
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.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.558+1G>A
NM_000092.5(COL4A4):c.559-2A>C
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.735+2T>C
NM_000092.5:c.1205_1369del

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