ClinVar Miner

List of variants in gene CDHR1 reported as likely benign for Cone-Rod Dystrophy, Recessive

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*173C>A rs41291358 0.20978
NM_033100.4(CDHR1):c.*907G>A rs12356218 0.14623
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08466
NM_033100.4(CDHR1):c.*2589G>A rs56127582 0.07490
NM_033100.4(CDHR1):c.*134C>T rs41291356 0.06624
NM_033100.4(CDHR1):c.*503C>T rs7908753 0.06168
NM_033100.4(CDHR1):c.*893C>T rs6585846 0.06157
NM_033100.4(CDHR1):c.*342C>G rs7908492 0.05477
NM_033100.4(CDHR1):c.*1383dup rs147801078 0.04764
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_033100.4(CDHR1):c.*394G>A rs7907675 0.02761
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_033100.4(CDHR1):c.297+6G>A rs79239487 0.00787

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