ClinVar Miner

List of variants reported as likely pathogenic for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822

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