ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by Laboratory of Prof. Karen Avraham, Tel Aviv University

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000091.5(COL4A3):c.1805G>A (p.Gly602Asp)
NM_000091.5(COL4A3):c.3943C>T (p.Pro1315Ser)

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