ClinVar Miner

List of variants studied for Leber congenital amaurosis by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 23
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1433_1442dup (p.Phe482Glyfs)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del)
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro)
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.5587-1G>C
NM_025114.3(CEP290):c.6871C>T (p.Gln2291Ter)
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875

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