ClinVar Miner

List of variants in gene C12orf57 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_138425.4(C12orf57):c.-4C>T rs377078607 0.00048
NM_138425.4(C12orf57):c.53-3C>T rs191711101 0.00026
NM_138425.4(C12orf57):c.62C>T (p.Ala21Val) rs146024802 0.00013
NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr) rs201246220 0.00009
NM_138425.4(C12orf57):c.23C>T (p.Pro8Leu) rs372253812 0.00008
NM_138425.4(C12orf57):c.109G>A (p.Asp37Asn) rs782238229 0.00003
NM_138425.4(C12orf57):c.332C>A (p.Thr111Asn) rs782679418 0.00001
NM_138425.4(C12orf57):c.20A>G (p.Gln7Arg) rs782600196
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys) rs782145941
NM_138425.4(C12orf57):c.32dup (p.Leu11fs) rs1169987249
NM_138425.4(C12orf57):c.35G>A (p.Ser12Asn) rs148483779

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