ClinVar Miner

List of variants in gene CFAP410 reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004928.3(CFAP410):c.493del (p.Ser165fs) rs752395624 0.00003
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_004928.3(CFAP410):c.331G>A (p.Val111Met) rs555164150 0.00002
NM_004928.3(CFAP410):c.96+6T>A rs758835278 0.00002
NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter) rs1457263136 0.00001
NM_004928.3(CFAP410):c.528_529insG (p.Ser177fs) rs2047653801 0.00001
NM_004928.3(CFAP410):c.545+1G>A rs778222701 0.00001
NM_004928.3(CFAP410):c.96+1G>A rs752137434 0.00001
NC_000021.8:g.(?_45750081)_(45757570_?)del
NC_000021.8:g.(?_45752896)_(45753165_?)del
NC_000021.8:g.(?_45757512)_(45757570_?)del
NM_004928.3(CFAP410):c.164_168dup (p.Pro57fs)
NM_004928.3(CFAP410):c.165_184dup (p.Gln62delinsArgSerLeuTer) rs2047686121
NM_004928.3(CFAP410):c.195_196del (p.Ser65fs) rs1602080173
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.285_301delinsACCCGTGCACGAACCCGT (p.Glu96fs)
NM_004928.3(CFAP410):c.381_396del (p.Glu128fs) rs2047658370
NM_004928.3(CFAP410):c.403_404del (p.Leu135fs)
NM_004928.3(CFAP410):c.436_466del (p.Glu146fs) rs746633371
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs) rs756970705
NM_004928.3(CFAP410):c.482dup (p.Ser162fs)
NM_004928.3(CFAP410):c.526del (p.Asp176fs)
NM_004928.3(CFAP410):c.545+1G>C rs778222701
NM_004928.3(CFAP410):c.96+1G>T rs752137434

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