ClinVar Miner

List of variants in gene COL4A5 reported by Baylor Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071

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