ClinVar Miner

List of variants studied 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: 19
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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_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
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_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del) rs1571250020
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968
NM_201548.5(CERKL):c.694G>A (p.Gly232Arg) rs78484040
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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