ClinVar Miner

List of variants in gene C12orf57, RNU7-1 studied for RNU7-1-related type 1 interferonopathy

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>G rs180837208
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_023317.1(RNU7-1):n.30A>G rs781842057
NR_023317.1(RNU7-1):n.35G>A rs1055698058
NR_023317.1(RNU7-1):n.41T>G rs782444004
NR_023317.1(RNU7-1):n.51C>T rs139594532

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