ClinVar Miner

List of variants reported as uncertain significance for X-linked Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000495.4(COL4A5):c.1683A>T (p.Gly561=)
NM_000495.4(COL4A5):c.1969C>A (p.Gln657Lys)
NM_000495.4(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.4(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.4(COL4A5):c.4568T>C (p.Ile1523Thr)
NM_000495.4(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.4(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_033380.2(COL4A5):c.3455-8T>G
NM_033380.2(COL4A5):c.4706+4A>C

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