ClinVar Miner

List of variants reported as uncertain significance by Lars Feuk Lab, Uppsala University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015326.5(SRGAP2):c.704G>A (p.Arg235His) rs2987927 0.00294
NM_003292.3(TPR):c.1037T>C (p.Ile346Thr) rs199892357 0.00207
NM_152331.4(ACOT4):c.566C>A (p.Ala189Asp) rs77261428
NM_152331.4(ACOT4):c.567T>A (p.Ala189=) rs74553611
NM_152331.4(ACOT4):c.569A>G (p.Tyr190Cys) rs77814755

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