ClinVar Miner

List of variants in gene C9orf72 reported as uncertain significance for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_018325.5(C9orf72):c.*602A>G rs567258799 0.00054
NM_018325.5(C9orf72):c.*901T>C rs774314112 0.00039
NM_018325.5(C9orf72):c.*317A>G rs886063839 0.00025
NM_001256054.3(C9orf72):c.-115A>C rs183102304 0.00024
NM_018325.5(C9orf72):c.*122G>A rs549202876 0.00021
NM_018325.5(C9orf72):c.*32A>C rs759595881 0.00013
NM_001256054.3(C9orf72):c.-152A>G rs756998583 0.00009
NM_018325.5(C9orf72):c.*1548G>A rs549660498 0.00008
NM_018325.5(C9orf72):c.*891A>G rs952713285 0.00007
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr) rs760887239 0.00007
NM_018325.5(C9orf72):c.765G>A (p.Leu255=) rs758724401 0.00007
NM_018325.5(C9orf72):c.*73G>A rs886063841 0.00006
NM_018325.5(C9orf72):c.*454A>G rs754824201 0.00005
NM_001256054.3(C9orf72):c.-173A>G rs886063848 0.00004
NM_018325.5(C9orf72):c.-8A>G rs548524458 0.00003
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro) rs200703028 0.00003
NM_018325.5(C9orf72):c.573A>G (p.Lys191=) rs775042273 0.00003
NM_018325.5(C9orf72):c.*673T>C rs886063835 0.00002
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe) rs541965231 0.00002
NM_001256054.3(C9orf72):c.-47G>A rs886063846 0.00001
NM_018325.5(C9orf72):c.*224C>G rs1333786274 0.00001
NM_018325.5(C9orf72):c.*250T>C rs886063840 0.00001
NM_018325.5(C9orf72):c.*552A>C rs886063837 0.00001
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=) rs780494226 0.00001
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln) rs750045383 0.00001
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys) rs773251849 0.00001
NM_001256054.3(C9orf72):c.-113C>G rs750403732
NM_001256054.3(C9orf72):c.-157G>A rs1819655845
NM_018325.5(C9orf72):c.*1064A>G rs184151041
NM_018325.5(C9orf72):c.*1136T>C rs375528640
NM_018325.5(C9orf72):c.*144C>T rs1820806932
NM_018325.5(C9orf72):c.*1626G>A rs1820774330
NM_018325.5(C9orf72):c.*356T>G rs886063838
NM_018325.5(C9orf72):c.*577G>C rs886063836
NM_018325.5(C9orf72):c.*787G>A rs148832592
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr) rs1307772456
NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His) rs767272170
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln) rs1819480368
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys) rs1375695528
NM_018325.5(C9orf72):c.771A>G (p.Pro257=) rs1169081203
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu) rs146043466

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