ClinVar Miner

List of variants reported as benign for Amelocerebrohypohidrotic syndrome by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.*292C>T rs8118 0.40388
NM_024589.3(ROGDI):c.*144G>A rs7546 0.40047
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu) rs143095485 0.01923
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_024589.3(ROGDI):c.696C>T (p.Phe232=) rs75818610 0.00686
NM_024589.3(ROGDI):c.646-5C>T rs115660765 0.00647
NM_024589.3(ROGDI):c.*270T>C rs76192577 0.00642
NM_024589.2(ROGDI):c.-320C>G rs17137286

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