ClinVar Miner

List of variants in gene CNGB1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.2634+7G>A rs751554370 0.00003
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) rs375519490
NM_001297.5(CNGB1):c.2501G>A (p.Arg834His) rs761295014
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) rs199780945
NM_001297.5(CNGB1):c.3340G>C (p.Ala1114Pro) rs200242407
NM_001297.5(CNGB1):c.821G>T (p.Gly274Val)

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