ClinVar Miner

List of variants in gene MCCC2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_022132.5(MCCC2):c.1019A>T (p.Asp340Val) rs398124370 0.00002
NM_022132.5(MCCC2):c.6G>C (p.Trp2Cys) rs727504007 0.00002
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) rs398124371 0.00001
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val) rs727504011 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486 0.00001
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.446C>T (p.Thr149Ile) rs727504008
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557

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