ClinVar Miner

Variants in gene TYK2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00460
NM_003331.5(TYK2):c.1960-15G>A rs12720277 0.00240
NM_003331.5(TYK2):c.44T>C (p.Val15Ala) rs144960992 0.00081
NM_003331.5(TYK2):c.513G>A (p.Ser171=) rs55988893 0.00052
NM_003331.5(TYK2):c.3200+3G>A rs143533630 0.00028
NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg) rs146786766 0.00017

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