ClinVar Miner

List of variants reported for X-linked Alport syndrome by Medical Genetics, University of Parma

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) rs1569494281
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu) rs2068082287
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu) rs2068126851
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs) rs2068537554
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) rs2066231013

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