ClinVar Miner

List of variants studied for cone-rod dystrophy and hearing loss by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_001330691.3(CEP78):c.1251+5G>A rs745750156 0.00003
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) rs761661253 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_007186.6(CEP250):c.361C>T (p.Arg121Ter) rs1341298773 0.00001
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter) rs1369076411 0.00001
NM_001330691.3(CEP78):c.1459-1G>T rs2118460550
NM_001330691.3(CEP78):c.1626-2A>G rs1057518753
NM_001330691.3(CEP78):c.499+1G>T rs1057517691
NM_001330691.3(CEP78):c.499+5G>A rs1057517693
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.633del (p.Trp212fs) rs1057517692
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302

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