ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655

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