ClinVar Miner

List of variants studied for Meckel syndrome by Suma Genomics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851

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