List of variants reported as likely pathogenic for Cone-rod dystrophy 12

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	rs761911901	0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	rs374017889	0.00003
NM_006017.3(PROM1):c.1142-1G>A	rs752619497	0.00001
NM_004750.5(CRLF1):c.397+1G>A	rs137853932
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.2118del (p.Asn707fs)
NM_006017.3(PROM1):c.2309del (p.Pro770fs)	rs878853400
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	rs766357803
NM_006017.3(PROM1):c.2476G>C (p.Asp826His)	rs1333833629
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)	rs1733212554

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