ClinVar Miner

List of variants reported as benign for amyotrophic neuralgia by Genome-Nilou Lab

Included ClinVar conditions (1):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_001113491.2(SEPTIN9):c.*325T>C rs448203 0.53926
NM_001113491.2(SEPTIN9):c.*40A>T rs11537705 0.50158
NM_001113491.2(SEPTIN9):c.*6A>G rs1059485 0.45123
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.08095
NM_001113491.2(SEPTIN9):c.*283C>T rs9897357 0.02822
NM_001113491.2(SEPTIN9):c.1042+10C>T rs114550498 0.02534
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01048
NM_001113491.2(SEPTIN9):c.1125-5C>T rs73377525 0.01030
NM_001113491.2(SEPTIN9):c.1043-4G>A rs147213134 0.00950
NM_001113491.2(SEPTIN9):c.*260C>T rs28364840 0.00872
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) rs202186741 0.00232
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_001113491.2(SEPTIN9):c.1477-9G>A rs145143440 0.00156
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 0.00135
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) rs189537244 0.00108
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) rs78745349 0.00034
NM_001113491.2(SEPTIN9):c.*207G>A rs560243481 0.00033
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) rs199557573 0.00029
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) rs370602650 0.00029
NM_001113491.2(SEPTIN9):c.1125-10C>T rs199872443 0.00028
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) rs80015943 0.00027
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) rs375450011 0.00021
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) rs187657144 0.00019
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) rs201471541 0.00016
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) rs546188962 0.00016
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) rs200363929 0.00011
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) rs774560543 0.00007
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) rs559745979 0.00005
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) rs775300302 0.00001
NM_001113491.2(SEPTIN9):c.*55dup rs5822173

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