ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs) rs2073096212
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg) rs2069931154
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) rs2070035662

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