ClinVar Miner

List of variants in gene combination C12orf57, RNU7-1 reported as pathogenic for RNU7-1-related type 1 interferonopathy

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_138425.3(C12orf57):c.-256C>T rs139594532
NM_138425.3(C12orf57):c.-266T>G rs782444004
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NM_138425.3(C12orf57):c.-272G>A rs1055698058
NR_023317.1(RNU7-1):n.28C>T rs180837208

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