ClinVar Miner

List of variants in gene CFAP410 reported as likely pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004928.3(CFAP410):c.493del (p.Ser165fs) rs752395624 0.00003
NM_004928.3(CFAP410):c.96+6T>A rs758835278 0.00002
NM_004928.3(CFAP410):c.137C>T (p.Thr46Met) rs763821454 0.00001
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_004928.3(CFAP410):c.364G>A (p.Asp122Asn) rs1602079250
NM_004928.3(CFAP410):c.96+1G>T rs752137434

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