ClinVar Miner

List of variants in gene ADAR, LOC129931512 studied for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
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.11G>C (p.Arg4Pro)
NM_001111.5(ADAR):c.12G>T (p.Arg4=)
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
NM_001111.5(ADAR):c.15+10G>A rs58655370
NM_001111.5(ADAR):c.15+13G>C rs1206051413
NM_001111.5(ADAR):c.15+4A>G rs2101670089
NM_001111.5(ADAR):c.15+6C>T rs1698312357
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala) rs1313399962
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser) rs1313399962

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