ClinVar Miner

List of variants reported as uncertain significance for X-linked Alport syndrome by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771

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