List of variants in gene C12orf57, RNU7-1 studied for Aicardi-Goutieres syndrome 9

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT	rs1255543147
NM_138425.3(C12orf57):c.-279C>G	rs180837208
NR_023317.1(RNU7-1):n.23T>G
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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