ClinVar Miner

List of variants reported for Retinitis pigmentosa 45 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022

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