ClinVar Miner

List of variants reported as pathogenic for cone-rod dystrophy 2 by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001

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