ClinVar Miner

List of variants in gene combination ADAR, LOC129931512 reported as likely benign for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.15+9G>A rs749243606 0.00004
NM_001111.5(ADAR):c.15+16C>T rs1353298437 0.00001
NM_001111.5(ADAR):c.15+20G>A rs1269610582 0.00001
NM_001111.5(ADAR):c.12G>T (p.Arg4=)
NM_001111.5(ADAR):c.15+10G>A rs58655370
NM_001111.5(ADAR):c.15+13G>C rs1206051413

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