ClinVar Miner

List of variants in gene COL4A4 reported as likely benign for X-linked Alport syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2165-13delT rs140965334
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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