ClinVar Miner

List of variants in gene C9orf72 reported as benign for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018325.5(C9orf72):c.665+115_665+117dup rs3063748 0.98615
NM_018325.5(C9orf72):c.*1344C>T rs13691 0.21385
NM_018325.5(C9orf72):c.*1406T>C rs9103 0.20796
NM_018325.5(C9orf72):c.870C>T (p.Ser290=) rs10122902 0.20696
NM_018325.5(C9orf72):c.-27G>A rs10757668 0.20162
NM_018325.5(C9orf72):c.*921C>A rs3739526 0.18576
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser) rs17769294 0.09705
NM_018325.5(C9orf72):c.*248T>C rs73440933 0.04662
NM_001256054.3(C9orf72):c.-164T>C rs41272893 0.02049
NM_018325.5(C9orf72):c.*1469T>A rs141012074 0.00519
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_018325.5(C9orf72):c.528T>C (p.Leu176=) rs34608611 0.00334
NM_018325.5(C9orf72):c.*837G>A rs80172172 0.00329
NM_018325.5(C9orf72):c.*1058G>T rs41272887 0.00203
NM_018325.5(C9orf72):c.288A>G (p.Ser96=) rs147752518 0.00146
NM_018325.5(C9orf72):c.*914A>G rs561651779 0.00118
NM_018325.5(C9orf72):c.*174C>T rs146530591 0.00092
NM_018325.5(C9orf72):c.*1024A>G rs563194682 0.00084
NM_018325.5(C9orf72):c.1149+9T>C rs139352974 0.00036
NM_018325.5(C9orf72):c.462C>T (p.Val154=) rs188263738 0.00019
NM_018325.5(C9orf72):c.682T>C (p.Leu228=) rs147034723 0.00012
NM_018325.5(C9orf72):c.*651G>T rs548883941 0.00001
NM_018325.5(C9orf72):c.600+27A>G rs2589050

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