ClinVar Miner

List of variants reported as uncertain significance for X-linked Alport syndrome by Research and Development, ARUP Laboratories

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_033380.3(COL4A5):c.*48_*49insAT rs1556464307
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.2245-14T>A rs1569495752
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) rs773883586
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208
NM_033380.3(COL4A5):c.466-17T>G rs104886415
NM_033380.3(COL4A5):c.4994+3A>G rs1569509373

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