ClinVar Miner

List of variants studied for Alport syndrome by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs) rs755109848
NM_000092.5(COL4A4):c.1578del (p.Gly527fs) rs2059733367
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) rs2066428351
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763

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