List of variants reported as pathogenic for Cone-rod dystrophy 20

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_172240.3(POC1B):c.810+1G>T	rs587777694	0.00005
NM_172240.3(POC1B):c.101-3T>G	rs750116711	0.00002
NM_172240.3(POC1B):c.144del (p.Lys48fs)	rs753599044
NM_172240.3(POC1B):c.199_201del (p.Gln67del)	rs587777693
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro)	rs76216585
NM_172240.3(POC1B):c.417del (p.Leu140fs)	rs2135738057

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