ClinVar Miner

List of variants in gene COL4A5 reported as likely benign by Genome-Nilou Lab

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.3647C>T (p.Pro1216Leu) rs1456370485 0.00003
NM_033380.3(COL4A5):c.137A>G (p.Glu46Gly) rs2147657717
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.439-24A>T rs2147754904
NM_033380.3(COL4A5):c.81+56C>A rs2147448578

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