ClinVar Miner

List of variants studied for Symmetrical dyschromatosis of extremities by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_001111.5(ADAR):c.2496+35C>G rs7532276

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