ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000495.5(COL4A5):c.*48_*49insAT rs1556464307
NM_000495.5(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_000495.5(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2245-14T>A rs1569495752
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser)
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile)
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4532G>A (p.Arg1511His) rs104886285
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.466-17T>G rs104886415
NM_000495.5(COL4A5):c.4976+3A>G rs1569509373

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