ClinVar Miner

List of variants reported as benign for Alport syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.609+21T>C rs6622333 0.18370
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.438+36G>T rs73526282 0.09880
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_033380.3(COL4A5):c.1032+25G>A rs58190747
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.891+37A>G rs2294543

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