ClinVar Miner

List of variants reported as likely benign for cone-rod dystrophy 16

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_177965.4(CFAP418):c.450G>A (p.Ser150=) rs35141355 0.01707
NM_177965.4(CFAP418):c.156-11C>T rs74652296 0.01693
NM_177965.4(CFAP418):c.*2330C>T rs150859301 0.01689
NM_177965.4(CFAP418):c.*791G>T rs140209136 0.01687
NM_177965.4(CFAP418):c.*2166T>G rs149998549 0.01510
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_177965.4(CFAP418):c.*536A>C rs150311212 0.00470
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_177965.4(CFAP418):c.*2212C>T rs79305170

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