ClinVar Miner

List of variants studied for cone-rod dystrophy by Baylor Genetics

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu) rs767699562 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_001384910.1(GUCA1A):c.455C>G (p.Ser152Cys) rs1300545339 0.00002
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His) rs765176802 0.00001
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_031220.4(PITPNM3):c.2305C>T (p.Arg769Trp) rs750932326 0.00001
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) rs1733188880
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly)
NM_020366.4(RPGRIP1):c.191C>T (p.Ser64Phe) rs1880692860
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228

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