ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (8):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752

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