ClinVar Miner

List of variants studied for blindness (disorder) by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) rs192426710 0.00128
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr) rs782410634 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) rs1553348960 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_000390.4(CHM):c.75_77del (p.Ala26del) rs1555968874
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) rs199619898
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) rs2031777349
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup) rs2064376509
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.852+4010_903+1699dup
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080

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