ClinVar Miner

List of variants in gene CDHR1 studied for Cone-Rod Dystrophy, Recessive

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*4A>G rs3814212 0.67129
NM_033100.4(CDHR1):c.*869T>G rs6585845 0.59527
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975 0.52743
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482 0.42520
NM_033100.4(CDHR1):c.*2643A>T rs1059342 0.29454
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.*245C>T rs74574460 0.01466
NM_033100.4(CDHR1):c.*2017C>T rs74619906 0.01450
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_033100.4(CDHR1):c.297+6G>A rs79239487 0.00787
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.*167A>T rs41309994 0.00135
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_033100.4(CDHR1):c.*1534A>G rs886047345 0.00068
NM_033100.4(CDHR1):c.*511G>A rs377102711 0.00025
NM_033100.4(CDHR1):c.*1055C>T rs117975094
NM_033100.4(CDHR1):c.*1915C>A rs41291362
NM_033100.4(CDHR1):c.*2588A>C rs1059341
NM_033100.4(CDHR1):c.*2704_*2715delinsATTA rs886047350
NM_033100.4(CDHR1):c.*335dup rs886047332
NM_033100.4(CDHR1):c.*599_*602del rs752991304
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900

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