ClinVar Miner

List of variants reported as benign for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 by Invitae

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Total variants: 23
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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.2682G>A (p.Val894=) rs1127309 0.29372
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731 0.00396
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001111.5(ADAR):c.2668+20A>C rs115805812 0.00266
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001111.5(ADAR):c.2886-11_2886-10del rs557801982 0.00128
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055 0.00042
NM_001111.5(ADAR):c.1887C>G (p.Ser629=) rs747820726 0.00019
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001111.5(ADAR):c.2497-15C>T rs113249520 0.00014
NM_001111.5(ADAR):c.1935-20C>T rs17843867 0.00012
NM_001111.5(ADAR):c.1851C>A (p.Thr617=) rs764879657 0.00009
NM_001111.5(ADAR):c.1897C>T (p.Arg633Cys)
NM_001111.5(ADAR):c.2361G>A (p.Ala787=)

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