ClinVar Miner

List of variants reported as likely benign for arterial tortuosity syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.*1340G>A rs78189695 0.01153
NM_030777.4(SLC2A10):c.*1449T>C rs181344940 0.00451
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_030777.4(SLC2A10):c.*29C>G rs34965637 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_030777.4(SLC2A10):c.*194G>T rs192739192 0.00240
NM_030777.4(SLC2A10):c.*1272G>C rs562491351 0.00185
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_030777.4(SLC2A10):c.*410A>C rs146660985 0.00039
NM_030777.4(SLC2A10):c.*1141G>A rs571798872
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237

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