ClinVar Miner

List of variants studied for cone-rod synaptic disorder syndrome, congenital nonprogressive

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001348484.3(RIMS2):c.2310-6T>C rs73699005 0.01478
NM_001348484.3(RIMS2):c.2309+9G>T rs117733379 0.00081
NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter) rs2099199060
NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter) rs1449861708
NM_001348484.3(RIMS2):c.3126G>A (p.Trp1042Ter) rs2093332969
NM_001348484.3(RIMS2):c.3508C>T (p.Arg1170Ter) rs2095850849
NM_001348484.3(RIMS2):c.4363+1G>A rs2099348315

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