ClinVar Miner

List of variants in gene C19orf12 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409

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