ClinVar Miner

List of variants in gene C12orf57 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_138425.4(C12orf57):c.-3C>T rs113296395 0.00171
NM_138425.4(C12orf57):c.127G>T (p.Ala43Ser) rs782311451 0.00001
NM_138425.4(C12orf57):c.12C>G (p.Ala4=) rs747313284
NM_138425.4(C12orf57):c.174del (p.Thr59fs) rs1591674794
NM_138425.4(C12orf57):c.279T>G (p.Pro93=) rs2542678803

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