ClinVar Miner

List of variants reported as likely pathogenic for X-linked Alport syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298

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