ClinVar Miner

List of variants studied for chorioretinitis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00981
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=) rs879175668 0.00551
NM_014264.5(PLK4):c.2109C>A (p.Ile703=) rs74770705 0.00271
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=) rs139343360 0.00248
NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu) rs149549954 0.00081
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00045
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His) rs183013671 0.00005
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.4208A>C (p.Glu1403Ala) rs753473295 0.00003
NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=) rs771701036 0.00002
NM_014264.5(PLK4):c.160G>A (p.Val54Ile) rs771069245 0.00001
NM_014264.5(PLK4):c.1935+4A>T rs758425287 0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys) rs773200383 0.00001
NM_014264.5(PLK4):c.609A>G (p.Thr203=) rs564323488 0.00001
NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys) rs1282749907 0.00001
NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro) rs750475050 0.00001
NM_020461.4(TUBGCP6):c.2789C>A (p.Pro930His)

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