ClinVar Miner

List of variants reported as pathogenic for Focal segmental glomerulosclerosis 9 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys) rs202128397 0.00001
NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser) rs879255250
NM_173689.7(CRB2):c.1886G>C (p.Cys629Ser) rs879255252
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251

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